Canonical Allele Identifier: CA385462987

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57906598G>T (hg19) ; chr12:g.57512815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512815G>T , CM000674.2:g.57512815G>T	GRCh38
NC_000012.11:g.57906598G>T , CM000674.1:g.57906598G>T	GRCh37
NC_000012.10:g.56192865G>T	NCBI36
NG_034077.1:g.29863G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1818G>T MANE Select	ENSP00000262027.5:p.Met606Ile
ENST00000262027.9:c.1818G>T	ENSP00000262027.5:p.Met606Ile
ENST00000537638.6:c.*110G>T	ENSP00000446168.2:n.*110G>T
ENST00000545888.6:c.*1319G>T	ENSP00000439307.2:n.*1319G>T
ENST00000546971.5:n.562G>T
ENST00000548202.5:n.325G>T
ENST00000548944.1:c.134-3680G>T	ENSP00000449071.1:n.134-3680G>T
ENST00000549048.1:n.483G>T
ENST00000628866.2:c.*1319G>T	ENSP00000486738.1:n.*1319G>T
NM_004990.3:c.1818G>T	NP_004981.2:p.Met606Ile
XM_006719398.2:c.1116G>T	XP_006719461.1:p.Met372Ile
XM_011538353.1:c.*110G>T	XP_011536655.1:n.*110G>T
XM_006719398.4:c.1116G>T	XP_006719461.1:p.Met372Ile
XR_001748704.2:n.1774G>T
XR_002957327.1:n.1765G>T
NM_004990.4:c.1818G>T MANE Select	NP_004981.2:p.Met606Ile