Canonical Allele Identifier: CA385461736

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905801T>G (hg19) ; chr12:g.57512018T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512018T>G , CM000674.2:g.57512018T>G	GRCh38
NC_000012.11:g.57905801T>G , CM000674.1:g.57905801T>G	GRCh37
NC_000012.10:g.56192068T>G	NCBI36
NG_034077.1:g.29066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1550T>G MANE Select	ENSP00000262027.5:p.Val517Gly
ENST00000262027.9:c.1550T>G	ENSP00000262027.5:p.Val517Gly
ENST00000447721.6:n.1192T>G
ENST00000537638.6:c.1550T>G	ENSP00000446168.2:p.Val517Gly
ENST00000545888.6:c.*1051T>G	ENSP00000439307.2:n.*1051T>G
ENST00000546971.5:n.294T>G
ENST00000548630.1:n.111T>G
ENST00000548944.1:c.134-4477T>G	ENSP00000449071.1:n.134-4477T>G
ENST00000549048.1:n.83T>G
ENST00000628866.2:c.*1051T>G	ENSP00000486738.1:n.*1051T>G
NM_004990.3:c.1550T>G	NP_004981.2:p.Val517Gly
XM_006719398.2:c.848T>G	XP_006719461.1:p.Val283Gly
XM_011538353.1:c.1550T>G	XP_011536655.1:p.Val517Gly
XM_006719398.4:c.848T>G	XP_006719461.1:p.Val283Gly
XR_001748704.2:n.1573T>G
XR_002957327.1:n.1497T>G
NM_004990.4:c.1550T>G MANE Select	NP_004981.2:p.Val517Gly