Canonical Allele Identifier: CA237768231

Gene: MARS1

Linked Data

• dbSNP Id: rs753817865
• gnomAD v3: 12-57512076-G-T
• gnomAD v4: 12-57512076-G-T
• MyVariant Identifiers: chr12:g.57905859G>T (hg19) ; chr12:g.57512076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512076G>T , CM000674.2:g.57512076G>T	GRCh38
NC_000012.11:g.57905859G>T , CM000674.1:g.57905859G>T	GRCh37
NC_000012.10:g.56192126G>T	NCBI36
NG_034077.1:g.29124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1608G>T MANE Select	ENSP00000262027.5:p.Trp536Cys
ENST00000262027.9:c.1608G>T	ENSP00000262027.5:p.Trp536Cys
ENST00000447721.6:n.1250G>T
ENST00000537638.6:c.1608G>T	ENSP00000446168.2:p.Trp536Cys
ENST00000545888.6:c.*1109G>T	ENSP00000439307.2:n.*1109G>T
ENST00000546971.5:n.352G>T
ENST00000548630.1:n.169G>T
ENST00000548944.1:c.134-4419G>T	ENSP00000449071.1:n.134-4419G>T
ENST00000549048.1:n.141G>T
ENST00000628866.2:c.*1109G>T	ENSP00000486738.1:n.*1109G>T
NM_004990.3:c.1608G>T	NP_004981.2:p.Trp536Cys
XM_006719398.2:c.906G>T	XP_006719461.1:p.Trp302Cys
XM_011538353.1:c.1608G>T	XP_011536655.1:p.Trp536Cys
XM_006719398.4:c.906G>T	XP_006719461.1:p.Trp302Cys
XR_001748704.2:n.1631G>T
XR_002957327.1:n.1555G>T
NM_004990.4:c.1608G>T MANE Select	NP_004981.2:p.Trp536Cys