Canonical Allele Identifier: CA6650527

Gene: MARS1

Linked Data

• dbSNP Id: rs186118125
• ExAC: 12:57905595 A / C
• gnomAD v2: 12-57905595-A-C
• gnomAD v3: 12-57511812-A-C
• gnomAD v4: 12-57511812-A-C
• MyVariant Identifiers: chr12:g.57905595A>C (hg19) ; chr12:g.57511812A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511812A>C , CM000674.2:g.57511812A>C	GRCh38
NC_000012.11:g.57905595A>C , CM000674.1:g.57905595A>C	GRCh37
NC_000012.10:g.56191862A>C	NCBI36
NG_034077.1:g.28860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1483A>C MANE Select	ENSP00000262027.5:p.Ile495Leu
ENST00000262027.9:c.1483A>C	ENSP00000262027.5:p.Ile495Leu
ENST00000447721.6:n.1125A>C
ENST00000537638.6:c.1483A>C	ENSP00000446168.2:p.Ile495Leu
ENST00000545888.6:c.*984A>C	ENSP00000439307.2:n.*984A>C
ENST00000546971.5:n.227A>C
ENST00000548630.1:n.44A>C
ENST00000548944.1:c.134-4683A>C	ENSP00000449071.1:n.134-4683A>C
ENST00000549048.1:n.16A>C
ENST00000628866.2:c.*984A>C	ENSP00000486738.1:n.*984A>C
NM_004990.3:c.1483A>C	NP_004981.2:p.Ile495Leu
XM_006719398.2:c.781A>C	XP_006719461.1:p.Ile261Leu
XM_011538353.1:c.1483A>C	XP_011536655.1:p.Ile495Leu
XM_006719398.4:c.781A>C	XP_006719461.1:p.Ile261Leu
XR_001748704.2:n.1506A>C
XR_002957327.1:n.1430A>C
NM_004990.4:c.1483A>C MANE Select	NP_004981.2:p.Ile495Leu