Canonical Allele Identifier: CA6767985

Gene: SART3

Linked Data

• dbSNP Id: rs368454974
• ExAC: 12:108923966 C / T
• gnomAD v2: 12-108923966-C-T
• gnomAD v3: 12-108530189-C-T
• gnomAD v4: 12-108530189-C-T
• COSMIC: COSM934577
• MyVariant Identifiers: chr12:g.108923966C>T (hg19) ; chr12:g.108530189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530189C>T , CM000674.2:g.108530189C>T	GRCh38
NC_000012.11:g.108923966C>T , CM000674.1:g.108923966C>T	GRCh37
NC_000012.10:g.107448096C>T	NCBI36
NG_012155.1:g.36200G>A
NG_012155.2:g.36201G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1922G>A	ENSP00000228284.4:p.Arg641His
ENST00000546815.6:c.1868G>A MANE Select	ENSP00000449386.2:p.Arg623His
ENST00000651280.1:c.*1024G>A	ENSP00000498612.1:n.*1024G>A
ENST00000228284.7:c.1868G>A	ENSP00000228284.3:p.Arg623His
ENST00000431469.6:c.1760G>A	ENSP00000414453.2:p.Arg587His
ENST00000546728.5:c.*762G>A	ENSP00000449743.1:n.*762G>A
ENST00000546815.5:c.1922G>A	ENSP00000449386.1:p.Arg641His
NM_014706.3:c.1868G>A	NP_055521.1:p.Arg623His
XM_005269241.3:c.1922G>A	XP_005269298.1:p.Arg641His
XM_011539026.1:c.1004G>A	XP_011537328.1:p.Arg335His
NM_014706.4:c.1868G>A MANE Select	NP_055521.1:p.Arg623His
XM_005269241.5:c.1922G>A	XP_005269298.1:p.Arg641His
XM_024449284.1:c.1004G>A	XP_024305052.1:p.Arg335His