Canonical Allele Identifier: CA6909572

Gene: SGCG

Linked Data

• dbSNP Id: rs771255124
• ExAC: 13:23777937 G / T
• gnomAD v2: 13-23777937-G-T
• gnomAD v4: 13-23203798-G-T
• MyVariant Identifiers: chr13:g.23777937G>T (hg19) ; chr13:g.23203798G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23203798G>T , CM000675.2:g.23203798G>T	GRCh38
NC_000013.10:g.23777937G>T , CM000675.1:g.23777937G>T	GRCh37
NC_000013.9:g.22675937G>T	NCBI36
NG_008759.1:g.27878G>T , LRG_207:g.27878G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218867.4:c.104G>T MANE Select	ENSP00000218867.3:p.Cys35Phe
ENST00000218867.3:c.104G>T	ENSP00000218867.3:p.Cys35Phe
NM_000231.2:c.104G>T , LRG_207t1:c.104G>T	NP_000222.1:p.Cys35Phe
XM_005266505.2:c.104G>T	XP_005266562.1:p.Cys35Phe
XM_006719861.2:c.158G>T	XP_006719924.1:p.Cys53Phe
XM_006719861.3:c.158G>T	XP_006719924.1:p.Cys53Phe
XM_024449397.1:c.104G>T	XP_024305165.1:p.Cys35Phe
NM_000231.3:c.104G>T MANE Select	NP_000222.2:p.Cys35Phe
NM_001378244.1:c.158G>T	NP_001365173.1:p.Cys53Phe
NM_001378245.1:c.104G>T	NP_001365174.1:p.Cys35Phe
NM_001378246.1:c.104G>T	NP_001365175.1:p.Cys35Phe