Canonical Allele Identifier: CA386436852

Gene: SART3

Linked Data

• MyVariant Identifiers: chr12:g.108923970T>C (hg19) ; chr12:g.108530193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530193T>C , CM000674.2:g.108530193T>C	GRCh38
NC_000012.11:g.108923970T>C , CM000674.1:g.108923970T>C	GRCh37
NC_000012.10:g.107448100T>C	NCBI36
NG_012155.1:g.36196A>G
NG_012155.2:g.36197A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1918A>G	ENSP00000228284.4:p.Lys640Glu
ENST00000546815.6:c.1864A>G MANE Select	ENSP00000449386.2:p.Lys622Glu
ENST00000651280.1:c.*1020A>G	ENSP00000498612.1:n.*1020A>G
ENST00000228284.7:c.1864A>G	ENSP00000228284.3:p.Lys622Glu
ENST00000431469.6:c.1756A>G	ENSP00000414453.2:p.Lys586Glu
ENST00000546728.5:c.*758A>G	ENSP00000449743.1:n.*758A>G
ENST00000546815.5:c.1918A>G	ENSP00000449386.1:p.Lys640Glu
NM_014706.3:c.1864A>G	NP_055521.1:p.Lys622Glu
XM_005269241.3:c.1918A>G	XP_005269298.1:p.Lys640Glu
XM_011539026.1:c.1000A>G	XP_011537328.1:p.Lys334Glu
NM_014706.4:c.1864A>G MANE Select	NP_055521.1:p.Lys622Glu
XM_005269241.5:c.1918A>G	XP_005269298.1:p.Lys640Glu
XM_024449284.1:c.1000A>G	XP_024305052.1:p.Lys334Glu