Canonical Allele Identifier: CA6767988

Gene: SART3

Linked Data

• dbSNP Id: rs776107033
• ExAC: 12:108923969 T / C
• gnomAD v2: 12-108923969-T-C
• MyVariant Identifiers: chr12:g.108923969T>C (hg19) ; chr12:g.108530192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530192T>C , CM000674.2:g.108530192T>C	GRCh38
NC_000012.11:g.108923969T>C , CM000674.1:g.108923969T>C	GRCh37
NC_000012.10:g.107448099T>C	NCBI36
NG_012155.1:g.36197A>G
NG_012155.2:g.36198A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1919A>G	ENSP00000228284.4:p.Lys640Arg
ENST00000546815.6:c.1865A>G MANE Select	ENSP00000449386.2:p.Lys622Arg
ENST00000651280.1:c.*1021A>G	ENSP00000498612.1:n.*1021A>G
ENST00000228284.7:c.1865A>G	ENSP00000228284.3:p.Lys622Arg
ENST00000431469.6:c.1757A>G	ENSP00000414453.2:p.Lys586Arg
ENST00000546728.5:c.*759A>G	ENSP00000449743.1:n.*759A>G
ENST00000546815.5:c.1919A>G	ENSP00000449386.1:p.Lys640Arg
NM_014706.3:c.1865A>G	NP_055521.1:p.Lys622Arg
XM_005269241.3:c.1919A>G	XP_005269298.1:p.Lys640Arg
XM_011539026.1:c.1001A>G	XP_011537328.1:p.Lys334Arg
NM_014706.4:c.1865A>G MANE Select	NP_055521.1:p.Lys622Arg
XM_005269241.5:c.1919A>G	XP_005269298.1:p.Lys640Arg
XM_024449284.1:c.1001A>G	XP_024305052.1:p.Lys334Arg