Canonical Allele Identifier: CA14960081

Gene: MRTFA

Linked Data

• dbSNP Id: rs5757949
• gnomAD v2: 22-40820151-T-C
• gnomAD v3: 22-40424147-T-C
• gnomAD v4: 22-40424147-T-C
• MyVariant Identifiers: chr22:g.40820151T>C (hg19) ; chr22:g.40424147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40424147T>C , CM000684.2:g.40424147T>C	GRCh38
NC_000022.10:g.40820151T>C , CM000684.1:g.40820151T>C	GRCh37
NC_000022.9:g.39150097T>C	NCBI36
NG_065810.1:g.217573A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355630.10:c.777+59A>G MANE Select	ENSP00000347847.5:n.777+59A>G
ENST00000402042.7:c.777+59A>G	ENSP00000385584.3:n.777+59A>G
ENST00000407029.7:c.477+59A>G	ENSP00000385835.1:n.477+59A>G
ENST00000651595.2:c.777+59A>G	ENSP00000498277.2:n.777+59A>G
ENST00000652095.2:c.582+59A>G	ENSP00000498671.1:n.582+59A>G
ENST00000355630.7:c.477+59A>G	ENSP00000347847.3:n.477+59A>G
ENST00000396617.7:c.477+59A>G	ENSP00000379861.3:n.477+59A>G
ENST00000402042.5:c.477+59A>G	ENSP00000385584.1:n.477+59A>G
ENST00000407029.5:c.477+59A>G	ENSP00000385835.1:n.477+59A>G
ENST00000614754.4:c.480+59A>G	ENSP00000484786.1:n.480+59A>G
ENST00000618196.4:c.582+59A>G	ENSP00000479510.1:n.582+59A>G
ENST00000618417.1:c.-1245-11255A>G	ENSP00000484628.1:n.-1245-11255A>G
ENST00000620651.4:c.480+59A>G	ENSP00000478420.1:n.480+59A>G
NM_001282660.1:c.477+59A>G	NP_001269589.1:n.477+59A>G
NM_001282661.1:c.477+59A>G	NP_001269590.1:n.477+59A>G
NM_001282662.1:c.477+59A>G	NP_001269591.1:n.477+59A>G
NM_020831.4:c.477+59A>G	NP_065882.1:n.477+59A>G
XM_005261691.3:c.582+59A>G	XP_005261748.1:n.582+59A>G
XM_005261692.1:c.558+59A>G	XP_005261749.1:n.558+59A>G
XM_005261694.1:c.477+59A>G	XP_005261751.1:n.477+59A>G
XM_011530283.1:c.558+59A>G	XP_011528585.1:n.558+59A>G
XM_011530284.1:c.582+59A>G	XP_011528586.1:n.582+59A>G
XM_011530285.1:c.354+59A>G	XP_011528587.1:n.354+59A>G
XM_011530286.1:c.354+59A>G	XP_011528588.1:n.354+59A>G
XM_011530287.1:c.-18-462A>G	XP_011528589.1:n.-18-462A>G
NM_001282661.2:c.777+59A>G	NP_001269590.2:n.777+59A>G
NM_001282662.2:c.777+59A>G	NP_001269591.2:n.777+59A>G
NM_001318139.1:c.582+59A>G	NP_001305068.1:n.582+59A>G
NM_020831.5:c.777+59A>G	NP_065882.2:n.777+59A>G
XM_017028888.2:c.558+59A>G	XP_016884377.1:n.558+59A>G
XM_017028889.1:c.354+59A>G	XP_016884378.1:n.354+59A>G
NM_001282660.2:c.477+59A>G	NP_001269589.1:n.477+59A>G
NM_001282661.3:c.777+59A>G	NP_001269590.2:n.777+59A>G
NM_001282662.3:c.777+59A>G	NP_001269591.2:n.777+59A>G
NM_001318139.2:c.582+59A>G	NP_001305068.1:n.582+59A>G
NM_020831.6:c.777+59A>G MANE Select	NP_065882.2:n.777+59A>G