Canonical Allele Identifier: CA385461823

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905840C>G (hg19) ; chr12:g.57512057C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512057C>G , CM000674.2:g.57512057C>G	GRCh38
NC_000012.11:g.57905840C>G , CM000674.1:g.57905840C>G	GRCh37
NC_000012.10:g.56192107C>G	NCBI36
NG_034077.1:g.29105C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1589C>G MANE Select	ENSP00000262027.5:p.Ala530Gly
ENST00000262027.9:c.1589C>G	ENSP00000262027.5:p.Ala530Gly
ENST00000447721.6:n.1231C>G
ENST00000537638.6:c.1589C>G	ENSP00000446168.2:p.Ala530Gly
ENST00000545888.6:c.*1090C>G	ENSP00000439307.2:n.*1090C>G
ENST00000546971.5:n.333C>G
ENST00000548630.1:n.150C>G
ENST00000548944.1:c.134-4438C>G	ENSP00000449071.1:n.134-4438C>G
ENST00000549048.1:n.122C>G
ENST00000628866.2:c.*1090C>G	ENSP00000486738.1:n.*1090C>G
NM_004990.3:c.1589C>G	NP_004981.2:p.Ala530Gly
XM_006719398.2:c.887C>G	XP_006719461.1:p.Ala296Gly
XM_011538353.1:c.1589C>G	XP_011536655.1:p.Ala530Gly
XM_006719398.4:c.887C>G	XP_006719461.1:p.Ala296Gly
XR_001748704.2:n.1612C>G
XR_002957327.1:n.1536C>G
NM_004990.4:c.1589C>G MANE Select	NP_004981.2:p.Ala530Gly