Canonical Allele Identifier: CA10621066

Gene: SGCD

Linked Data

• ClinVar Variation Id: 352448
• ClinVar RCV Id: RCV000270761 ; RCV000362878
• dbSNP Id: rs115728448
• gnomAD v2: 5-156194267-G-A
• gnomAD v3: 5-156767256-G-A
• gnomAD v4: 5-156767256-G-A
• MyVariant Identifiers: chr5:g.156194267G>A (hg19) ; chr5:g.156767256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156767256G>A , CM000667.2:g.156767256G>A	GRCh38
NC_000005.9:g.156194267G>A , CM000667.1:g.156194267G>A	GRCh37
NC_000005.8:g.156126845G>A	NCBI36
NG_008693.2:g.901914G>A , LRG_205:g.901914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.*7866G>A MANE Select	ENSP00000338343.4:n.*7866G>A
ENST00000435422.7:c.*7866G>A	ENSP00000403003.2:n.*7866G>A
NM_000337.5:c.*7866G>A , LRG_205t1:c.*7866G>A	NP_000328.2:n.*7866G>A
NM_001128209.1:c.*7866G>A	NP_001121681.1:n.*7866G>A
XM_005265966.3:c.*7866G>A	XP_005266023.1:n.*7866G>A
XM_006714911.2:c.*7866G>A	XP_006714974.1:n.*7866G>A
XM_011534621.1:c.*7866G>A	XP_011532923.1:n.*7866G>A
NM_001128209.2:c.*7866G>A	NP_001121681.1:n.*7866G>A
NM_000337.6:c.*7866G>A MANE Select	NP_000328.2:n.*7866G>A