Canonical Allele Identifier: CA386437483

Gene: SART3

Linked Data

• MyVariant Identifiers: chr12:g.108924074T>G (hg19) ; chr12:g.108530297T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530297T>G , CM000674.2:g.108530297T>G	GRCh38
NC_000012.11:g.108924074T>G , CM000674.1:g.108924074T>G	GRCh37
NC_000012.10:g.107448204T>G	NCBI36
NG_012155.1:g.36092A>C
NG_012155.2:g.36093A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1814A>C	ENSP00000228284.4:p.Glu605Ala
ENST00000546815.6:c.1760A>C MANE Select	ENSP00000449386.2:p.Glu587Ala
ENST00000651280.1:c.*916A>C	ENSP00000498612.1:n.*916A>C
ENST00000228284.7:c.1760A>C	ENSP00000228284.3:p.Glu587Ala
ENST00000431469.6:c.1652A>C	ENSP00000414453.2:p.Glu551Ala
ENST00000546728.5:c.*654A>C	ENSP00000449743.1:n.*654A>C
ENST00000546815.5:c.1814A>C	ENSP00000449386.1:p.Glu605Ala
ENST00000547528.5:c.*924A>C	ENSP00000446577.1:n.*924A>C
ENST00000548582.5:n.487A>C
ENST00000619503.4:n.696A>C
NM_014706.3:c.1760A>C	NP_055521.1:p.Glu587Ala
XM_005269241.3:c.1814A>C	XP_005269298.1:p.Glu605Ala
XM_011539026.1:c.896A>C	XP_011537328.1:p.Glu299Ala
NM_014706.4:c.1760A>C MANE Select	NP_055521.1:p.Glu587Ala
XM_005269241.5:c.1814A>C	XP_005269298.1:p.Glu605Ala
XM_024449284.1:c.896A>C	XP_024305052.1:p.Glu299Ala