Canonical Allele Identifier: CA6650634

Gene: MARS1

Linked Data

• dbSNP Id: rs774396490
• ExAC: 12:57906616 C / A
• gnomAD v2: 12-57906616-C-A
• gnomAD v4: 12-57512833-C-A
• MyVariant Identifiers: chr12:g.57906616C>A (hg19) ; chr12:g.57512833C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512833C>A , CM000674.2:g.57512833C>A	GRCh38
NC_000012.11:g.57906616C>A , CM000674.1:g.57906616C>A	GRCh37
NC_000012.10:g.56192883C>A	NCBI36
NG_034077.1:g.29881C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1836C>A MANE Select	ENSP00000262027.5:p.Ile612=
ENST00000262027.9:c.1836C>A	ENSP00000262027.5:p.Ile612=
ENST00000537638.6:c.*128C>A	ENSP00000446168.2:n.*128C>A
ENST00000545888.6:c.*1337C>A	ENSP00000439307.2:n.*1337C>A
ENST00000546971.5:n.580C>A
ENST00000548202.5:n.343C>A
ENST00000548944.1:c.134-3662C>A	ENSP00000449071.1:n.134-3662C>A
ENST00000549048.1:n.501C>A
ENST00000628866.2:c.*1337C>A	ENSP00000486738.1:n.*1337C>A
NM_004990.3:c.1836C>A	NP_004981.2:p.Ile612=
XM_006719398.2:c.1134C>A	XP_006719461.1:p.Ile378=
XM_011538353.1:c.*128C>A	XP_011536655.1:n.*128C>A
XM_006719398.4:c.1134C>A	XP_006719461.1:p.Ile378=
XR_001748704.2:n.1792C>A
XR_002957327.1:n.1783C>A
NM_004990.4:c.1836C>A MANE Select	NP_004981.2:p.Ile612=