Canonical Allele Identifier: CA362010491

Gene: SGCD

Linked Data

• ClinVar Variation Id: 464019
• ClinVar RCV Id: RCV000537732 ; RCV002506334 ; RCV003233706
• dbSNP Id: rs1324593212
• gnomAD v2: 5-156021993-C-G
• gnomAD v3: 5-156594983-C-G
• gnomAD v4: 5-156594983-C-G
• MyVariant Identifiers: chr5:g.156021993C>G (hg19) ; chr5:g.156594983C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594983C>G , CM000667.2:g.156594983C>G	GRCh38
NC_000005.9:g.156021993C>G , CM000667.1:g.156021993C>G	GRCh37
NC_000005.8:g.155954571C>G	NCBI36
NG_008693.2:g.729640C>G , LRG_205:g.729640C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.434C>G MANE Select	ENSP00000338343.4:p.Ser145Cys
ENST00000337851.8:c.434C>G	ENSP00000338343.4:p.Ser145Cys
ENST00000435422.7:c.431C>G	ENSP00000403003.2:p.Ser144Cys
ENST00000517913.5:c.434C>G	ENSP00000429378.1:p.Ser145Cys
NM_000337.5:c.434C>G , LRG_205t1:c.434C>G	NP_000328.2:p.Ser145Cys
NM_001128209.1:c.431C>G	NP_001121681.1:p.Ser144Cys
NM_172244.2:c.434C>G	NP_758447.1:p.Ser145Cys
XM_005265966.3:c.434C>G	XP_005266023.1:p.Ser145Cys
XM_005265967.1:c.434C>G	XP_005266024.1:p.Ser145Cys
XM_006714911.2:c.434C>G	XP_006714974.1:p.Ser145Cys
XM_011534621.1:c.431C>G	XP_011532923.1:p.Ser144Cys
XM_005265966.5:c.434C>G	XP_005266023.1:p.Ser145Cys
XM_005265967.2:c.434C>G	XP_005266024.1:p.Ser145Cys
XM_011534621.2:c.431C>G	XP_011532923.1:p.Ser144Cys
XM_017009723.2:c.434C>G	XP_016865212.1:p.Ser145Cys
XM_017009724.1:c.434C>G	XP_016865213.1:p.Ser145Cys
NM_001128209.2:c.431C>G	NP_001121681.1:p.Ser144Cys
NM_172244.3:c.434C>G	NP_758447.1:p.Ser145Cys
NM_000337.6:c.434C>G MANE Select	NP_000328.2:p.Ser145Cys