Canonical Allele Identifier: CA385462992

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57906599G>C (hg19) ; chr12:g.57512816G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512816G>C , CM000674.2:g.57512816G>C	GRCh38
NC_000012.11:g.57906599G>C , CM000674.1:g.57906599G>C	GRCh37
NC_000012.10:g.56192866G>C	NCBI36
NG_034077.1:g.29864G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1819G>C MANE Select	ENSP00000262027.5:p.Ala607Pro
ENST00000262027.9:c.1819G>C	ENSP00000262027.5:p.Ala607Pro
ENST00000537638.6:c.*111G>C	ENSP00000446168.2:n.*111G>C
ENST00000545888.6:c.*1320G>C	ENSP00000439307.2:n.*1320G>C
ENST00000546971.5:n.563G>C
ENST00000548202.5:n.326G>C
ENST00000548944.1:c.134-3679G>C	ENSP00000449071.1:n.134-3679G>C
ENST00000549048.1:n.484G>C
ENST00000628866.2:c.*1320G>C	ENSP00000486738.1:n.*1320G>C
NM_004990.3:c.1819G>C	NP_004981.2:p.Ala607Pro
XM_006719398.2:c.1117G>C	XP_006719461.1:p.Ala373Pro
XM_011538353.1:c.*111G>C	XP_011536655.1:n.*111G>C
XM_006719398.4:c.1117G>C	XP_006719461.1:p.Ala373Pro
XR_001748704.2:n.1775G>C
XR_002957327.1:n.1766G>C
NM_004990.4:c.1819G>C MANE Select	NP_004981.2:p.Ala607Pro