Canonical Allele Identifier: CA3530706

Gene: SGCD

Linked Data

• ClinVar Variation Id: 464023
• ClinVar RCV Id: RCV000524650 ; RCV001152446 ; RCV003139765
• dbSNP Id: rs753240054
• ExAC: 5:156186360 G / A
• gnomAD v2: 5-156186360-G-A
• gnomAD v3: 5-156759349-G-A
• gnomAD v4: 5-156759349-G-A
• MyVariant Identifiers: chr5:g.156186360G>A (hg19) ; chr5:g.156759349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156759349G>A , CM000667.2:g.156759349G>A	GRCh38
NC_000005.9:g.156186360G>A , CM000667.1:g.156186360G>A	GRCh37
NC_000005.8:g.156118938G>A	NCBI36
NG_008693.2:g.894007G>A , LRG_205:g.894007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.832G>A MANE Select	ENSP00000338343.4:p.Ala278Thr
ENST00000337851.8:c.832G>A	ENSP00000338343.4:p.Ala278Thr
ENST00000435422.7:c.829G>A	ENSP00000403003.2:p.Ala277Thr
NM_000337.5:c.832G>A , LRG_205t1:c.832G>A	NP_000328.2:p.Ala278Thr
NM_001128209.1:c.829G>A	NP_001121681.1:p.Ala277Thr
XM_005265966.3:c.832G>A	XP_005266023.1:p.Ala278Thr
XM_006714911.2:c.832G>A	XP_006714974.1:p.Ala278Thr
XM_011534621.1:c.829G>A	XP_011532923.1:p.Ala277Thr
XM_005265966.5:c.832G>A	XP_005266023.1:p.Ala278Thr
XM_011534621.2:c.829G>A	XP_011532923.1:p.Ala277Thr
XM_017009723.2:c.832G>A	XP_016865212.1:p.Ala278Thr
XM_017009724.1:c.832G>A	XP_016865213.1:p.Ala278Thr
NM_001128209.2:c.829G>A	NP_001121681.1:p.Ala277Thr
NM_000337.6:c.832G>A MANE Select	NP_000328.2:p.Ala278Thr