Canonical Allele Identifier: CA1083315850
Gene: SGCD HGNC NCBI

Linked Data

dbSNP Id: rs1757601745
gnomAD v3: 5-156766942-C-A
gnomAD v4: 5-156766942-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156766942C>A , CM000667.2:g.156766942C>A GRCh38
NC_000005.9:g.156193953C>A , CM000667.1:g.156193953C>A GRCh37
NC_000005.8:g.156126531C>A NCBI36
NG_008693.2:g.901600C>A , LRG_205:g.901600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.*7552C>A MANE Select ENSP00000338343.4:n.*7552C>A
ENST00000435422.7:c.*7552C>A ENSP00000403003.2:n.*7552C>A
NM_000337.5:c.*7552C>A , LRG_205t1:c.*7552C>A NP_000328.2:n.*7552C>A
NM_001128209.1:c.*7552C>A NP_001121681.1:n.*7552C>A
XM_005265966.3:c.*7552C>A XP_005266023.1:n.*7552C>A
XM_006714911.2:c.*7552C>A XP_006714974.1:n.*7552C>A
XM_011534621.1:c.*7552C>A XP_011532923.1:n.*7552C>A
NM_001128209.2:c.*7552C>A NP_001121681.1:n.*7552C>A
NM_000337.6:c.*7552C>A MANE Select NP_000328.2:n.*7552C>A
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