Canonical Allele Identifier: CA411665981

Gene: MRTFA

Linked Data

• MyVariant Identifiers: chr22:g.40820251T>G (hg19) ; chr22:g.40424247T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40424247T>G , CM000684.2:g.40424247T>G	GRCh38
NC_000022.10:g.40820251T>G , CM000684.1:g.40820251T>G	GRCh37
NC_000022.9:g.39150197T>G	NCBI36
NG_065810.1:g.217473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355630.10:c.736A>C MANE Select	ENSP00000347847.5:p.Ser246Arg
ENST00000402042.7:c.736A>C	ENSP00000385584.3:p.Ser246Arg
ENST00000407029.7:c.436A>C	ENSP00000385835.1:p.Ser146Arg
ENST00000651595.2:c.736A>C	ENSP00000498277.2:p.Ser246Arg
ENST00000652095.2:c.541A>C	ENSP00000498671.1:p.Ser181Arg
ENST00000355630.7:c.436A>C	ENSP00000347847.3:p.Ser146Arg
ENST00000396617.7:c.436A>C	ENSP00000379861.3:p.Ser146Arg
ENST00000402042.5:c.436A>C	ENSP00000385584.1:p.Ser146Arg
ENST00000407029.5:c.436A>C	ENSP00000385835.1:p.Ser146Arg
ENST00000614754.4:c.439A>C	ENSP00000484786.1:p.Ser147Arg
ENST00000618196.4:c.541A>C	ENSP00000479510.1:p.Ser181Arg
ENST00000618417.1:c.-1245-11355A>C	ENSP00000484628.1:n.-1245-11355A>C
ENST00000620651.4:c.439A>C	ENSP00000478420.1:p.Ser147Arg
NM_001282660.1:c.436A>C	NP_001269589.1:p.Ser146Arg
NM_001282661.1:c.436A>C	NP_001269590.1:p.Ser146Arg
NM_001282662.1:c.436A>C	NP_001269591.1:p.Ser146Arg
NM_020831.4:c.436A>C	NP_065882.1:p.Ser146Arg
XM_005261691.3:c.541A>C	XP_005261748.1:p.Ser181Arg
XM_005261692.1:c.517A>C	XP_005261749.1:p.Ser173Arg
XM_005261694.1:c.436A>C	XP_005261751.1:p.Ser146Arg
XM_011530283.1:c.517A>C	XP_011528585.1:p.Ser173Arg
XM_011530284.1:c.541A>C	XP_011528586.1:p.Ser181Arg
XM_011530285.1:c.313A>C	XP_011528587.1:p.Ser105Arg
XM_011530286.1:c.313A>C	XP_011528588.1:p.Ser105Arg
XM_011530287.1:c.-18-562A>C	XP_011528589.1:n.-18-562A>C
NM_001282661.2:c.736A>C	NP_001269590.2:p.Ser246Arg
NM_001282662.2:c.736A>C	NP_001269591.2:p.Ser246Arg
NM_001318139.1:c.541A>C	NP_001305068.1:p.Ser181Arg
NM_020831.5:c.736A>C	NP_065882.2:p.Ser246Arg
XM_017028888.2:c.517A>C	XP_016884377.1:p.Ser173Arg
XM_017028889.1:c.313A>C	XP_016884378.1:p.Ser105Arg
NM_001282660.2:c.436A>C	NP_001269589.1:p.Ser146Arg
NM_001282661.3:c.736A>C	NP_001269590.2:p.Ser246Arg
NM_001282662.3:c.736A>C	NP_001269591.2:p.Ser246Arg
NM_001318139.2:c.541A>C	NP_001305068.1:p.Ser181Arg
NM_020831.6:c.736A>C MANE Select	NP_065882.2:p.Ser246Arg