Canonical Allele Identifier: CA948099087

Gene: MARS1

Linked Data

• dbSNP Id: rs1158938385
• gnomAD v3: 12-57512658-G-C
• gnomAD v4: 12-57512658-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512658G>C , CM000674.2:g.57512658G>C	GRCh38
NC_000012.11:g.57906441G>C , CM000674.1:g.57906441G>C	GRCh37
NC_000012.10:g.56192708G>C	NCBI36
NG_034077.1:g.29706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1754-93G>C MANE Select	ENSP00000262027.5:n.1754-93G>C
ENST00000262027.9:c.1754-93G>C	ENSP00000262027.5:n.1754-93G>C
ENST00000537638.6:c.*46-93G>C	ENSP00000446168.2:n.*46-93G>C
ENST00000545888.6:c.*1255-93G>C	ENSP00000439307.2:n.*1255-93G>C
ENST00000546971.5:n.498-93G>C
ENST00000548202.5:n.168G>C
ENST00000548944.1:c.134-3837G>C	ENSP00000449071.1:n.134-3837G>C
ENST00000549048.1:n.419-93G>C
ENST00000628866.2:c.*1255-93G>C	ENSP00000486738.1:n.*1255-93G>C
NM_004990.3:c.1754-93G>C	NP_004981.2:n.1754-93G>C
XM_006719398.2:c.1052-93G>C	XP_006719461.1:n.1052-93G>C
XM_011538353.1:c.*46-93G>C	XP_011536655.1:n.*46-93G>C
XM_006719398.4:c.1052-93G>C	XP_006719461.1:n.1052-93G>C
XR_001748704.2:n.1710-93G>C
XR_002957327.1:n.1701-93G>C
NM_004990.4:c.1754-93G>C MANE Select	NP_004981.2:n.1754-93G>C