Canonical Allele Identifier: CA385460909

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905487A>T (hg19) ; chr12:g.57511704A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511704A>T , CM000674.2:g.57511704A>T	GRCh38
NC_000012.11:g.57905487A>T , CM000674.1:g.57905487A>T	GRCh37
NC_000012.10:g.56191754A>T	NCBI36
NG_034077.1:g.28752A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1375A>T MANE Select	ENSP00000262027.5:p.Lys459Ter
ENST00000262027.9:c.1375A>T	ENSP00000262027.5:p.Lys459Ter
ENST00000447721.6:n.1017A>T
ENST00000537638.6:c.1375A>T	ENSP00000446168.2:p.Lys459Ter
ENST00000545888.6:c.*876A>T	ENSP00000439307.2:n.*876A>T
ENST00000546971.5:n.119A>T
ENST00000548944.1:c.134-4791A>T	ENSP00000449071.1:n.134-4791A>T
ENST00000549603.1:n.321A>T
ENST00000628866.2:c.*876A>T	ENSP00000486738.1:n.*876A>T
NM_004990.3:c.1375A>T	NP_004981.2:p.Lys459Ter
XM_006719398.2:c.673A>T	XP_006719461.1:p.Lys225Ter
XM_011538353.1:c.1375A>T	XP_011536655.1:p.Lys459Ter
XM_006719398.4:c.673A>T	XP_006719461.1:p.Lys225Ter
XR_001748704.2:n.1398A>T
XR_002957327.1:n.1322A>T
NM_004990.4:c.1375A>T MANE Select	NP_004981.2:p.Lys459Ter