Canonical Allele Identifier: CA386436864

Gene: SART3

Linked Data

• dbSNP Id: rs2136666741
• MyVariant Identifiers: chr12:g.108923972T>C (hg19) ; chr12:g.108530195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530195T>C , CM000674.2:g.108530195T>C	GRCh38
NC_000012.11:g.108923972T>C , CM000674.1:g.108923972T>C	GRCh37
NC_000012.10:g.107448102T>C	NCBI36
NG_012155.1:g.36194A>G
NG_012155.2:g.36195A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1916A>G	ENSP00000228284.4:p.Glu639Gly
ENST00000546815.6:c.1862A>G MANE Select	ENSP00000449386.2:p.Glu621Gly
ENST00000651280.1:c.*1018A>G	ENSP00000498612.1:n.*1018A>G
ENST00000228284.7:c.1862A>G	ENSP00000228284.3:p.Glu621Gly
ENST00000431469.6:c.1754A>G	ENSP00000414453.2:p.Glu585Gly
ENST00000546728.5:c.*756A>G	ENSP00000449743.1:n.*756A>G
ENST00000546815.5:c.1916A>G	ENSP00000449386.1:p.Glu639Gly
NM_014706.3:c.1862A>G	NP_055521.1:p.Glu621Gly
XM_005269241.3:c.1916A>G	XP_005269298.1:p.Glu639Gly
XM_011539026.1:c.998A>G	XP_011537328.1:p.Glu333Gly
NM_014706.4:c.1862A>G MANE Select	NP_055521.1:p.Glu621Gly
XM_005269241.5:c.1916A>G	XP_005269298.1:p.Glu639Gly
XM_024449284.1:c.998A>G	XP_024305052.1:p.Glu333Gly