Canonical Allele Identifier: CA6650515

Gene: MARS1

Linked Data

• ClinVar Variation Id: 1681736
• ClinVar RCV Id: RCV002239238 ; RCV004047368
• dbSNP Id: rs781462684
• ExAC: 12:57905534 G / C
• gnomAD v2: 12-57905534-G-C
• gnomAD v3: 12-57511751-G-C
• gnomAD v4: 12-57511751-G-C
• MyVariant Identifiers: chr12:g.57905534G>C (hg19) ; chr12:g.57511751G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511751G>C , CM000674.2:g.57511751G>C	GRCh38
NC_000012.11:g.57905534G>C , CM000674.1:g.57905534G>C	GRCh37
NC_000012.10:g.56191801G>C	NCBI36
NG_034077.1:g.28799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1422G>C MANE Select	ENSP00000262027.5:p.Trp474Cys
ENST00000262027.9:c.1422G>C	ENSP00000262027.5:p.Trp474Cys
ENST00000447721.6:n.1064G>C
ENST00000537638.6:c.1422G>C	ENSP00000446168.2:p.Trp474Cys
ENST00000545888.6:c.*923G>C	ENSP00000439307.2:n.*923G>C
ENST00000546971.5:n.166G>C
ENST00000548944.1:c.134-4744G>C	ENSP00000449071.1:n.134-4744G>C
ENST00000549603.1:n.368G>C
ENST00000628866.2:c.*923G>C	ENSP00000486738.1:n.*923G>C
NM_004990.3:c.1422G>C	NP_004981.2:p.Trp474Cys
XM_006719398.2:c.720G>C	XP_006719461.1:p.Trp240Cys
XM_011538353.1:c.1422G>C	XP_011536655.1:p.Trp474Cys
XM_006719398.4:c.720G>C	XP_006719461.1:p.Trp240Cys
XR_001748704.2:n.1445G>C
XR_002957327.1:n.1369G>C
NM_004990.4:c.1422G>C MANE Select	NP_004981.2:p.Trp474Cys