Canonical Allele Identifier: CA6650329

Gene: MARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57498290G>C , CM000674.2:g.57498290G>C	GRCh38
NC_000012.11:g.57892073G>C , CM000674.1:g.57892073G>C	GRCh37
NC_000012.10:g.56178340G>C	NCBI36
NG_034077.1:g.15338G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004990.4:c.887+17G>C MANE Select	NP_004981.2:n.887+17G>C
ENST00000262027.10:c.887+17G>C MANE Select	ENSP00000262027.5:n.887+17G>C
NM_004990.3:c.887+17G>C	NP_004981.2:n.887+17G>C
ENST00000262027.9:c.887+17G>C	ENSP00000262027.5:n.887+17G>C
ENST00000447721.6:n.529+17G>C
ENST00000537638.6:c.887+17G>C	ENSP00000446168.2:n.887+17G>C
ENST00000545888.6:c.*388+17G>C	ENSP00000439307.2:n.*388+17G>C
ENST00000551892.1:c.*252+17G>C	ENSP00000450018.1:n.*252+17G>C
ENST00000552371.1:c.386-130G>C
ENST00000628866.2:c.*388+17G>C	ENSP00000486738.1:n.*388+17G>C
XM_006719398.2:c.185+17G>C	XP_006719461.1:n.185+17G>C
XM_006719398.4:c.185+17G>C	XP_006719461.1:n.185+17G>C
XM_011538353.1:c.887+17G>C	XP_011536655.1:n.887+17G>C
XR_001748704.2:n.910+17G>C
XR_002957327.1:n.834+17G>C