Canonical Allele Identifier: CA411665932

Gene: MRTFA

Linked Data

• MyVariant Identifiers: chr22:g.40820227A>C (hg19) ; chr22:g.40424223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40424223A>C , CM000684.2:g.40424223A>C	GRCh38
NC_000022.10:g.40820227A>C , CM000684.1:g.40820227A>C	GRCh37
NC_000022.9:g.39150173A>C	NCBI36
NG_065810.1:g.217497T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355630.10:c.760T>G MANE Select	ENSP00000347847.5:p.Ser254Ala
ENST00000402042.7:c.760T>G	ENSP00000385584.3:p.Ser254Ala
ENST00000407029.7:c.460T>G	ENSP00000385835.1:p.Ser154Ala
ENST00000651595.2:c.760T>G	ENSP00000498277.2:p.Ser254Ala
ENST00000652095.2:c.565T>G	ENSP00000498671.1:p.Ser189Ala
ENST00000355630.7:c.460T>G	ENSP00000347847.3:p.Ser154Ala
ENST00000396617.7:c.460T>G	ENSP00000379861.3:p.Ser154Ala
ENST00000402042.5:c.460T>G	ENSP00000385584.1:p.Ser154Ala
ENST00000407029.5:c.460T>G	ENSP00000385835.1:p.Ser154Ala
ENST00000614754.4:c.463T>G	ENSP00000484786.1:p.Ser155Ala
ENST00000618196.4:c.565T>G	ENSP00000479510.1:p.Ser189Ala
ENST00000618417.1:c.-1245-11331T>G	ENSP00000484628.1:n.-1245-11331T>G
ENST00000620651.4:c.463T>G	ENSP00000478420.1:p.Ser155Ala
NM_001282660.1:c.460T>G	NP_001269589.1:p.Ser154Ala
NM_001282661.1:c.460T>G	NP_001269590.1:p.Ser154Ala
NM_001282662.1:c.460T>G	NP_001269591.1:p.Ser154Ala
NM_020831.4:c.460T>G	NP_065882.1:p.Ser154Ala
XM_005261691.3:c.565T>G	XP_005261748.1:p.Ser189Ala
XM_005261692.1:c.541T>G	XP_005261749.1:p.Ser181Ala
XM_005261694.1:c.460T>G	XP_005261751.1:p.Ser154Ala
XM_011530283.1:c.541T>G	XP_011528585.1:p.Ser181Ala
XM_011530284.1:c.565T>G	XP_011528586.1:p.Ser189Ala
XM_011530285.1:c.337T>G	XP_011528587.1:p.Ser113Ala
XM_011530286.1:c.337T>G	XP_011528588.1:p.Ser113Ala
XM_011530287.1:c.-18-538T>G	XP_011528589.1:n.-18-538T>G
NM_001282661.2:c.760T>G	NP_001269590.2:p.Ser254Ala
NM_001282662.2:c.760T>G	NP_001269591.2:p.Ser254Ala
NM_001318139.1:c.565T>G	NP_001305068.1:p.Ser189Ala
NM_020831.5:c.760T>G	NP_065882.2:p.Ser254Ala
XM_017028888.2:c.541T>G	XP_016884377.1:p.Ser181Ala
XM_017028889.1:c.337T>G	XP_016884378.1:p.Ser113Ala
NM_001282660.2:c.460T>G	NP_001269589.1:p.Ser154Ala
NM_001282661.3:c.760T>G	NP_001269590.2:p.Ser254Ala
NM_001282662.3:c.760T>G	NP_001269591.2:p.Ser254Ala
NM_001318139.2:c.565T>G	NP_001305068.1:p.Ser189Ala
NM_020831.6:c.760T>G MANE Select	NP_065882.2:p.Ser254Ala