Canonical Allele Identifier: CA2638705245
Gene: SGCA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168711C>A , CM000679.2:g.50168711C>A GRCh38
NC_000017.10:g.48246072C>A , CM000679.1:g.48246072C>A GRCh37
NC_000017.9:g.45601071C>A NCBI36
NG_008889.1:g.7707C>A , LRG_203:g.7707C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.584+139C>A ENSP00000422030.2:n.584+139C>A
ENST00000511303.6:n.309+139C>A
ENST00000512526.2:c.575+139C>A ENSP00000426606.2:n.575+139C>A
ENST00000682109.1:c.464+139C>A ENSP00000508041.1:n.464+139C>A
ENST00000683226.1:n.294+139C>A
ENST00000683294.1:c.584+139C>A ENSP00000508134.1:n.584+139C>A
ENST00000262018.8:c.584+139C>A MANE Select ENSP00000262018.3:n.584+139C>A
ENST00000262018.7:c.584+139C>A ENSP00000262018.3:n.584+139C>A
ENST00000344627.10:c.584+139C>A ENSP00000345522.6:n.584+139C>A
ENST00000502555.5:c.*243+139C>A ENSP00000422817.1:n.*243+139C>A
ENST00000504073.1:c.51+139C>A
ENST00000511303.5:c.305+139C>A ENSP00000426104.1:n.305+139C>A
ENST00000512526.1:c.419+139C>A
ENST00000513821.5:c.584+139C>A ENSP00000426571.1:n.584+139C>A
ENST00000513942.5:n.375+139C>A
NM_000023.2:c.584+139C>A , LRG_203t1:c.584+139C>A NP_000014.1:n.584+139C>A
NM_001135697.1:c.584+139C>A NP_001129169.1:n.584+139C>A
XM_011525120.1:c.584+139C>A XP_011523422.1:n.584+139C>A
XM_011525121.1:c.584+139C>A XP_011523423.1:n.584+139C>A
XM_011525122.1:c.584+139C>A XP_011523424.1:n.584+139C>A
XM_011525123.1:c.584+139C>A XP_011523425.1:n.584+139C>A
XM_011525124.1:c.278+139C>A XP_011523426.1:n.278+139C>A
XR_934517.1:n.650+139C>A
NM_000023.3:c.584+139C>A NP_000014.1:n.584+139C>A
NM_001135697.2:c.584+139C>A NP_001129169.1:n.584+139C>A
NR_135553.1:n.640+139C>A
XM_011525120.2:c.746+139C>A XP_011523422.2:n.746+139C>A
XM_011525121.2:c.746+139C>A XP_011523423.2:n.746+139C>A
XM_011525122.2:c.746+139C>A XP_011523424.2:n.746+139C>A
XM_011525123.2:c.746+139C>A XP_011523425.2:n.746+139C>A
XM_011525124.2:c.278+139C>A XP_011523426.1:n.278+139C>A
XM_024450873.1:c.278+139C>A XP_024306641.1:n.278+139C>A
XR_002958056.1:n.1102+139C>A
NM_000023.4:c.584+139C>A MANE Select NP_000014.1:n.584+139C>A
NM_001135697.3:c.584+139C>A NP_001129169.1:n.584+139C>A
NR_135553.2:n.620+139C>A
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