Canonical Allele Identifier: CA2038898456

Gene: MARS1

Linked Data

• dbSNP Id: rs1267025787
• gnomAD v4: 12-57511927-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511927G>C , CM000674.2:g.57511927G>C	GRCh38
NC_000012.11:g.57905710G>C , CM000674.1:g.57905710G>C	GRCh37
NC_000012.10:g.56191977G>C	NCBI36
NG_034077.1:g.28975G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1539+59G>C MANE Select	ENSP00000262027.5:n.1539+59G>C
ENST00000262027.9:c.1539+59G>C	ENSP00000262027.5:n.1539+59G>C
ENST00000447721.6:n.1181+59G>C
ENST00000537638.6:c.1539+59G>C	ENSP00000446168.2:n.1539+59G>C
ENST00000545888.6:c.*1040+59G>C	ENSP00000439307.2:n.*1040+59G>C
ENST00000546971.5:n.283+59G>C
ENST00000548630.1:n.100+59G>C
ENST00000548944.1:c.134-4568G>C	ENSP00000449071.1:n.134-4568G>C
ENST00000549048.1:n.72+59G>C
ENST00000628866.2:c.*1040+59G>C	ENSP00000486738.1:n.*1040+59G>C
NM_004990.3:c.1539+59G>C	NP_004981.2:n.1539+59G>C
XM_006719398.2:c.837+59G>C	XP_006719461.1:n.837+59G>C
XM_011538353.1:c.1539+59G>C	XP_011536655.1:n.1539+59G>C
XM_006719398.4:c.837+59G>C	XP_006719461.1:n.837+59G>C
XR_001748704.2:n.1562+59G>C
XR_002957327.1:n.1486+59G>C
NM_004990.4:c.1539+59G>C MANE Select	NP_004981.2:n.1539+59G>C