Canonical Allele Identifier: CA2619465513

Gene: MARS1

Linked Data

• gnomAD v4: 12-57511551-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511551C>A , CM000674.2:g.57511551C>A	GRCh38
NC_000012.11:g.57905334C>A , CM000674.1:g.57905334C>A	GRCh37
NC_000012.10:g.56191601C>A	NCBI36
NG_034077.1:g.28599C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1369-147C>A MANE Select	ENSP00000262027.5:n.1369-147C>A
ENST00000262027.9:c.1369-147C>A	ENSP00000262027.5:n.1369-147C>A
ENST00000447721.6:n.1011-147C>A
ENST00000537638.6:c.1369-147C>A	ENSP00000446168.2:n.1369-147C>A
ENST00000545888.6:c.*870-147C>A	ENSP00000439307.2:n.*870-147C>A
ENST00000548944.1:c.134-4944C>A	ENSP00000449071.1:n.134-4944C>A
ENST00000549603.1:n.315-147C>A
ENST00000628866.2:c.*870-147C>A	ENSP00000486738.1:n.*870-147C>A
NM_004990.3:c.1369-147C>A	NP_004981.2:n.1369-147C>A
XM_006719398.2:c.667-147C>A	XP_006719461.1:n.667-147C>A
XM_011538353.1:c.1369-147C>A	XP_011536655.1:n.1369-147C>A
XM_006719398.4:c.667-147C>A	XP_006719461.1:n.667-147C>A
XR_001748704.2:n.1392-147C>A
XR_002957327.1:n.1316-147C>A
NM_004990.4:c.1369-147C>A MANE Select	NP_004981.2:n.1369-147C>A