Canonical Allele Identifier: CA385462990

Gene: MARS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1819G>T MANE Select	ENSP00000262027.5:p.Ala607Ser
ENST00000262027.9:c.1819G>T	ENSP00000262027.5:p.Ala607Ser
ENST00000537638.6:c.*111G>T	ENSP00000446168.2:n.*111G>T
ENST00000545888.6:c.*1320G>T	ENSP00000439307.2:n.*1320G>T
ENST00000546971.5:n.563G>T
ENST00000548202.5:n.326G>T
ENST00000548944.1:c.134-3679G>T	ENSP00000449071.1:n.134-3679G>T
ENST00000549048.1:n.484G>T
ENST00000628866.2:c.*1320G>T	ENSP00000486738.1:n.*1320G>T
NM_004990.3:c.1819G>T	NP_004981.2:p.Ala607Ser
XM_006719398.2:c.1117G>T	XP_006719461.1:p.Ala373Ser
XM_011538353.1:c.*111G>T	XP_011536655.1:n.*111G>T
XM_006719398.4:c.1117G>T	XP_006719461.1:p.Ala373Ser
XR_001748704.2:n.1775G>T
XR_002957327.1:n.1766G>T
NM_004990.4:c.1819G>T MANE Select	NP_004981.2:p.Ala607Ser