Canonical Allele Identifier: CA362008077
Gene: SGCD HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.155935683C>T (hg19) chr5:g.156508673C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508673C>T , CM000667.2:g.156508673C>T GRCh38
NC_000005.9:g.155935683C>T , CM000667.1:g.155935683C>T GRCh37
NC_000005.8:g.155868261C>T NCBI36
NG_008693.2:g.643330C>T , LRG_205:g.643330C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.265C>T MANE Select ENSP00000338343.4:p.Leu89Phe
ENST00000337851.8:c.265C>T ENSP00000338343.4:p.Leu89Phe
ENST00000435422.7:c.262C>T ENSP00000403003.2:p.Leu88Phe
ENST00000517913.5:c.265C>T ENSP00000429378.1:p.Leu89Phe
ENST00000524347.2:c.*129C>T ENSP00000430794.1:n.*129C>T
NM_000337.5:c.265C>T , LRG_205t1:c.265C>T NP_000328.2:p.Leu89Phe
NM_001128209.1:c.262C>T NP_001121681.1:p.Leu88Phe
NM_172244.2:c.265C>T NP_758447.1:p.Leu89Phe
XM_005265966.3:c.265C>T XP_005266023.1:p.Leu89Phe
XM_005265967.1:c.265C>T XP_005266024.1:p.Leu89Phe
XM_006714911.2:c.265C>T XP_006714974.1:p.Leu89Phe
XM_011534621.1:c.262C>T XP_011532923.1:p.Leu88Phe
XM_005265966.5:c.265C>T XP_005266023.1:p.Leu89Phe
XM_005265967.2:c.265C>T XP_005266024.1:p.Leu89Phe
XM_011534621.2:c.262C>T XP_011532923.1:p.Leu88Phe
XM_017009723.2:c.265C>T XP_016865212.1:p.Leu89Phe
XM_017009724.1:c.265C>T XP_016865213.1:p.Leu89Phe
NM_001128209.2:c.262C>T NP_001121681.1:p.Leu88Phe
NM_172244.3:c.265C>T NP_758447.1:p.Leu89Phe
NM_000337.6:c.265C>T MANE Select NP_000328.2:p.Leu89Phe
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