Canonical Allele Identifier: CA385461021

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905503G>C (hg19) ; chr12:g.57511720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511720G>C , CM000674.2:g.57511720G>C	GRCh38
NC_000012.11:g.57905503G>C , CM000674.1:g.57905503G>C	GRCh37
NC_000012.10:g.56191770G>C	NCBI36
NG_034077.1:g.28768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1391G>C MANE Select	ENSP00000262027.5:p.Trp464Ser
ENST00000262027.9:c.1391G>C	ENSP00000262027.5:p.Trp464Ser
ENST00000447721.6:n.1033G>C
ENST00000537638.6:c.1391G>C	ENSP00000446168.2:p.Trp464Ser
ENST00000545888.6:c.*892G>C	ENSP00000439307.2:n.*892G>C
ENST00000546971.5:n.135G>C
ENST00000548944.1:c.134-4775G>C	ENSP00000449071.1:n.134-4775G>C
ENST00000549603.1:n.337G>C
ENST00000628866.2:c.*892G>C	ENSP00000486738.1:n.*892G>C
NM_004990.3:c.1391G>C	NP_004981.2:p.Trp464Ser
XM_006719398.2:c.689G>C	XP_006719461.1:p.Trp230Ser
XM_011538353.1:c.1391G>C	XP_011536655.1:p.Trp464Ser
XM_006719398.4:c.689G>C	XP_006719461.1:p.Trp230Ser
XR_001748704.2:n.1414G>C
XR_002957327.1:n.1338G>C
NM_004990.4:c.1391G>C MANE Select	NP_004981.2:p.Trp464Ser