Canonical Allele Identifier: CA385463030

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57906609C>A (hg19) ; chr12:g.57512826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512826C>A , CM000674.2:g.57512826C>A	GRCh38
NC_000012.11:g.57906609C>A , CM000674.1:g.57906609C>A	GRCh37
NC_000012.10:g.56192876C>A	NCBI36
NG_034077.1:g.29874C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1829C>A MANE Select	ENSP00000262027.5:p.Thr610Lys
ENST00000262027.9:c.1829C>A	ENSP00000262027.5:p.Thr610Lys
ENST00000537638.6:c.*121C>A	ENSP00000446168.2:n.*121C>A
ENST00000545888.6:c.*1330C>A	ENSP00000439307.2:n.*1330C>A
ENST00000546971.5:n.573C>A
ENST00000548202.5:n.336C>A
ENST00000548944.1:c.134-3669C>A	ENSP00000449071.1:n.134-3669C>A
ENST00000549048.1:n.494C>A
ENST00000628866.2:c.*1330C>A	ENSP00000486738.1:n.*1330C>A
NM_004990.3:c.1829C>A	NP_004981.2:p.Thr610Lys
XM_006719398.2:c.1127C>A	XP_006719461.1:p.Thr376Lys
XM_011538353.1:c.*121C>A	XP_011536655.1:n.*121C>A
XM_006719398.4:c.1127C>A	XP_006719461.1:p.Thr376Lys
XR_001748704.2:n.1785C>A
XR_002957327.1:n.1776C>A
NM_004990.4:c.1829C>A MANE Select	NP_004981.2:p.Thr610Lys