Canonical Allele Identifier: CA6767990

Gene: SART3

Linked Data

• dbSNP Id: rs763468222
• ExAC: 12:108923975 G / A
• gnomAD v2: 12-108923975-G-A
• gnomAD v4: 12-108530198-G-A
• COSMIC: COSM3870661
• MyVariant Identifiers: chr12:g.108923975G>A (hg19) ; chr12:g.108530198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530198G>A , CM000674.2:g.108530198G>A	GRCh38
NC_000012.11:g.108923975G>A , CM000674.1:g.108923975G>A	GRCh37
NC_000012.10:g.107448105G>A	NCBI36
NG_012155.1:g.36191C>T
NG_012155.2:g.36192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1913C>T	ENSP00000228284.4:p.Pro638Leu
ENST00000546815.6:c.1859C>T MANE Select	ENSP00000449386.2:p.Pro620Leu
ENST00000651280.1:c.*1015C>T	ENSP00000498612.1:n.*1015C>T
ENST00000228284.7:c.1859C>T	ENSP00000228284.3:p.Pro620Leu
ENST00000431469.6:c.1751C>T	ENSP00000414453.2:p.Pro584Leu
ENST00000546728.5:c.*753C>T	ENSP00000449743.1:n.*753C>T
ENST00000546815.5:c.1913C>T	ENSP00000449386.1:p.Pro638Leu
NM_014706.3:c.1859C>T	NP_055521.1:p.Pro620Leu
XM_005269241.3:c.1913C>T	XP_005269298.1:p.Pro638Leu
XM_011539026.1:c.995C>T	XP_011537328.1:p.Pro332Leu
NM_014706.4:c.1859C>T MANE Select	NP_055521.1:p.Pro620Leu
XM_005269241.5:c.1913C>T	XP_005269298.1:p.Pro638Leu
XM_024449284.1:c.995C>T	XP_024305052.1:p.Pro332Leu