Canonical Allele Identifier: CA385461423

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905562T>A (hg19) ; chr12:g.57511779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511779T>A , CM000674.2:g.57511779T>A	GRCh38
NC_000012.11:g.57905562T>A , CM000674.1:g.57905562T>A	GRCh37
NC_000012.10:g.56191829T>A	NCBI36
NG_034077.1:g.28827T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1450T>A MANE Select	ENSP00000262027.5:p.Ser484Thr
ENST00000262027.9:c.1450T>A	ENSP00000262027.5:p.Ser484Thr
ENST00000447721.6:n.1092T>A
ENST00000537638.6:c.1450T>A	ENSP00000446168.2:p.Ser484Thr
ENST00000545888.6:c.*951T>A	ENSP00000439307.2:n.*951T>A
ENST00000546971.5:n.194T>A
ENST00000548630.1:n.11T>A
ENST00000548944.1:c.134-4716T>A	ENSP00000449071.1:n.134-4716T>A
ENST00000549603.1:n.396T>A
ENST00000628866.2:c.*951T>A	ENSP00000486738.1:n.*951T>A
NM_004990.3:c.1450T>A	NP_004981.2:p.Ser484Thr
XM_006719398.2:c.748T>A	XP_006719461.1:p.Ser250Thr
XM_011538353.1:c.1450T>A	XP_011536655.1:p.Ser484Thr
XM_006719398.4:c.748T>A	XP_006719461.1:p.Ser250Thr
XR_001748704.2:n.1473T>A
XR_002957327.1:n.1397T>A
NM_004990.4:c.1450T>A MANE Select	NP_004981.2:p.Ser484Thr