Canonical Allele Identifier: CA385461609

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905610A>G (hg19) ; chr12:g.57511827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511827A>G , CM000674.2:g.57511827A>G	GRCh38
NC_000012.11:g.57905610A>G , CM000674.1:g.57905610A>G	GRCh37
NC_000012.10:g.56191877A>G	NCBI36
NG_034077.1:g.28875A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1498A>G MANE Select	ENSP00000262027.5:p.Lys500Glu
ENST00000262027.9:c.1498A>G	ENSP00000262027.5:p.Lys500Glu
ENST00000447721.6:n.1140A>G
ENST00000537638.6:c.1498A>G	ENSP00000446168.2:p.Lys500Glu
ENST00000545888.6:c.*999A>G	ENSP00000439307.2:n.*999A>G
ENST00000546971.5:n.242A>G
ENST00000548630.1:n.59A>G
ENST00000548944.1:c.134-4668A>G	ENSP00000449071.1:n.134-4668A>G
ENST00000549048.1:n.31A>G
ENST00000628866.2:c.*999A>G	ENSP00000486738.1:n.*999A>G
NM_004990.3:c.1498A>G	NP_004981.2:p.Lys500Glu
XM_006719398.2:c.796A>G	XP_006719461.1:p.Lys266Glu
XM_011538353.1:c.1498A>G	XP_011536655.1:p.Lys500Glu
XM_006719398.4:c.796A>G	XP_006719461.1:p.Lys266Glu
XR_001748704.2:n.1521A>G
XR_002957327.1:n.1445A>G
NM_004990.4:c.1498A>G MANE Select	NP_004981.2:p.Lys500Glu