Canonical Allele Identifier: CA130643038

Gene: SGCD

Linked Data

• dbSNP Id: rs777646135
• gnomAD v2: 5-156194050-T-G
• gnomAD v3: 5-156767039-T-G
• gnomAD v4: 5-156767039-T-G
• MyVariant Identifiers: chr5:g.156194050T>G (hg19) ; chr5:g.156767039T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156767039T>G , CM000667.2:g.156767039T>G	GRCh38
NC_000005.9:g.156194050T>G , CM000667.1:g.156194050T>G	GRCh37
NC_000005.8:g.156126628T>G	NCBI36
NG_008693.2:g.901697T>G , LRG_205:g.901697T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.*7649T>G MANE Select	ENSP00000338343.4:n.*7649T>G
ENST00000435422.7:c.*7649T>G	ENSP00000403003.2:n.*7649T>G
NM_000337.5:c.*7649T>G , LRG_205t1:c.*7649T>G	NP_000328.2:n.*7649T>G
NM_001128209.1:c.*7649T>G	NP_001121681.1:n.*7649T>G
XM_005265966.3:c.*7649T>G	XP_005266023.1:n.*7649T>G
XM_006714911.2:c.*7649T>G	XP_006714974.1:n.*7649T>G
XM_011534621.1:c.*7649T>G	XP_011532923.1:n.*7649T>G
NM_001128209.2:c.*7649T>G	NP_001121681.1:n.*7649T>G
NM_000337.6:c.*7649T>G MANE Select	NP_000328.2:n.*7649T>G