Canonical Allele Identifier: CA480395734

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57905808T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512025T>C , CM000674.2:g.57512025T>C	GRCh38
NC_000012.11:g.57905808T>C , CM000674.1:g.57905808T>C	GRCh37
NC_000012.10:g.56192075T>C	NCBI36
NG_034077.1:g.29073T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1557T>C MANE Select	ENSP00000262027.5:p.Phe519=
ENST00000262027.9:c.1557T>C	ENSP00000262027.5:p.Phe519=
ENST00000447721.6:n.1199T>C
ENST00000537638.6:c.1557T>C	ENSP00000446168.2:p.Phe519=
ENST00000545888.6:c.*1058T>C	ENSP00000439307.2:n.*1058T>C
ENST00000546971.5:n.301T>C
ENST00000548630.1:n.118T>C
ENST00000548944.1:c.134-4470T>C	ENSP00000449071.1:n.134-4470T>C
ENST00000549048.1:n.90T>C
ENST00000628866.2:c.*1058T>C	ENSP00000486738.1:n.*1058T>C
NM_004990.3:c.1557T>C	NP_004981.2:p.Phe519=
XM_006719398.2:c.855T>C	XP_006719461.1:p.Phe285=
XM_011538353.1:c.1557T>C	XP_011536655.1:p.Phe519=
XM_006719398.4:c.855T>C	XP_006719461.1:p.Phe285=
XR_001748704.2:n.1580T>C
XR_002957327.1:n.1504T>C
NM_004990.4:c.1557T>C MANE Select	NP_004981.2:p.Phe519=