Canonical Allele Identifier: CA237768185

Gene: MARS1

Linked Data

• ClinVar Variation Id: 2928692
• ClinVar RCV Id: RCV003789466
• dbSNP Id: rs761092163
• gnomAD v4: 12-57512028-T-C
• MyVariant Identifiers: chr12:g.57905811T>C (hg19) ; chr12:g.57512028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512028T>C , CM000674.2:g.57512028T>C	GRCh38
NC_000012.11:g.57905811T>C , CM000674.1:g.57905811T>C	GRCh37
NC_000012.10:g.56192078T>C	NCBI36
NG_034077.1:g.29076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1560T>C MANE Select	ENSP00000262027.5:p.Asp520=
ENST00000262027.9:c.1560T>C	ENSP00000262027.5:p.Asp520=
ENST00000447721.6:n.1202T>C
ENST00000537638.6:c.1560T>C	ENSP00000446168.2:p.Asp520=
ENST00000545888.6:c.*1061T>C	ENSP00000439307.2:n.*1061T>C
ENST00000546971.5:n.304T>C
ENST00000548630.1:n.121T>C
ENST00000548944.1:c.134-4467T>C	ENSP00000449071.1:n.134-4467T>C
ENST00000549048.1:n.93T>C
ENST00000628866.2:c.*1061T>C	ENSP00000486738.1:n.*1061T>C
NM_004990.3:c.1560T>C	NP_004981.2:p.Asp520=
XM_006719398.2:c.858T>C	XP_006719461.1:p.Asp286=
XM_011538353.1:c.1560T>C	XP_011536655.1:p.Asp520=
XM_006719398.4:c.858T>C	XP_006719461.1:p.Asp286=
XR_001748704.2:n.1583T>C
XR_002957327.1:n.1507T>C
NM_004990.4:c.1560T>C MANE Select	NP_004981.2:p.Asp520=