Canonical Allele Identifier: CA2581515106
Gene: SGCD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508710T>G , CM000667.2:g.156508710T>G GRCh38
NC_000005.9:g.155935720T>G , CM000667.1:g.155935720T>G GRCh37
NC_000005.8:g.155868298T>G NCBI36
NG_008693.2:g.643367T>G , LRG_205:g.643367T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337851.9:c.294+8T>G MANE Select ENSP00000338343.4:n.294+8T>G
ENST00000337851.8:c.294+8T>G ENSP00000338343.4:n.294+8T>G
ENST00000435422.7:c.291+8T>G ENSP00000403003.2:n.291+8T>G
ENST00000517913.5:c.294+8T>G ENSP00000429378.1:n.294+8T>G
ENST00000524347.2:c.*158+8T>G ENSP00000430794.1:n.*158+8T>G
NM_000337.5:c.294+8T>G , LRG_205t1:c.294+8T>G NP_000328.2:n.294+8T>G
NM_001128209.1:c.291+8T>G NP_001121681.1:n.291+8T>G
NM_172244.2:c.294+8T>G NP_758447.1:n.294+8T>G
XM_005265966.3:c.294+8T>G XP_005266023.1:n.294+8T>G
XM_005265967.1:c.294+8T>G XP_005266024.1:n.294+8T>G
XM_006714911.2:c.294+8T>G XP_006714974.1:n.294+8T>G
XM_011534621.1:c.291+8T>G XP_011532923.1:n.291+8T>G
XM_005265966.5:c.294+8T>G XP_005266023.1:n.294+8T>G
XM_005265967.2:c.294+8T>G XP_005266024.1:n.294+8T>G
XM_011534621.2:c.291+8T>G XP_011532923.1:n.291+8T>G
XM_017009723.2:c.294+8T>G XP_016865212.1:n.294+8T>G
XM_017009724.1:c.294+8T>G XP_016865213.1:n.294+8T>G
NM_001128209.2:c.291+8T>G NP_001121681.1:n.291+8T>G
NM_172244.3:c.294+8T>G NP_758447.1:n.294+8T>G
NM_000337.6:c.294+8T>G MANE Select NP_000328.2:n.294+8T>G
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