Canonical Allele Identifier: CA480395807

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512082-A-G
• MyVariant Identifiers: chr12:g.57905865A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512082A>G , CM000674.2:g.57512082A>G	GRCh38
NC_000012.11:g.57905865A>G , CM000674.1:g.57905865A>G	GRCh37
NC_000012.10:g.56192132A>G	NCBI36
NG_034077.1:g.29130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1614A>G MANE Select	ENSP00000262027.5:p.Arg538=
ENST00000262027.9:c.1614A>G	ENSP00000262027.5:p.Arg538=
ENST00000447721.6:n.1256A>G
ENST00000537638.6:c.1614A>G	ENSP00000446168.2:p.Arg538=
ENST00000545888.6:c.*1115A>G	ENSP00000439307.2:n.*1115A>G
ENST00000546971.5:n.358A>G
ENST00000548630.1:n.175A>G
ENST00000548944.1:c.134-4413A>G	ENSP00000449071.1:n.134-4413A>G
ENST00000549048.1:n.147A>G
ENST00000628866.2:c.*1115A>G	ENSP00000486738.1:n.*1115A>G
NM_004990.3:c.1614A>G	NP_004981.2:p.Arg538=
XM_006719398.2:c.912A>G	XP_006719461.1:p.Arg304=
XM_011538353.1:c.1614A>G	XP_011536655.1:p.Arg538=
XM_006719398.4:c.912A>G	XP_006719461.1:p.Arg304=
XR_001748704.2:n.1637A>G
XR_002957327.1:n.1561A>G
NM_004990.4:c.1614A>G MANE Select	NP_004981.2:p.Arg538=