Canonical Allele Identifier: CA6650556

Gene: MARS1

Linked Data

• dbSNP Id: rs757519287
• ExAC: 12:57905870 G / C
• gnomAD v2: 12-57905870-G-C
• MyVariant Identifiers: chr12:g.57905870G>C (hg19) ; chr12:g.57512087G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512087G>C , CM000674.2:g.57512087G>C	GRCh38
NC_000012.11:g.57905870G>C , CM000674.1:g.57905870G>C	GRCh37
NC_000012.10:g.56192137G>C	NCBI36
NG_034077.1:g.29135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1619G>C MANE Select	ENSP00000262027.5:p.Trp540Ser
ENST00000262027.9:c.1619G>C	ENSP00000262027.5:p.Trp540Ser
ENST00000447721.6:n.1261G>C
ENST00000537638.6:c.1619G>C	ENSP00000446168.2:p.Trp540Ser
ENST00000545888.6:c.*1120G>C	ENSP00000439307.2:n.*1120G>C
ENST00000546971.5:n.363G>C
ENST00000548630.1:n.180G>C
ENST00000548944.1:c.134-4408G>C	ENSP00000449071.1:n.134-4408G>C
ENST00000549048.1:n.152G>C
ENST00000628866.2:c.*1120G>C	ENSP00000486738.1:n.*1120G>C
NM_004990.3:c.1619G>C	NP_004981.2:p.Trp540Ser
XM_006719398.2:c.917G>C	XP_006719461.1:p.Trp306Ser
XM_011538353.1:c.1619G>C	XP_011536655.1:p.Trp540Ser
XM_006719398.4:c.917G>C	XP_006719461.1:p.Trp306Ser
XR_001748704.2:n.1642G>C
XR_002957327.1:n.1566G>C
NM_004990.4:c.1619G>C MANE Select	NP_004981.2:p.Trp540Ser