Canonical Allele Identifier: CA385457493

Gene: MARS1

Linked Data

• MyVariant Identifiers: chr12:g.57894122C>A (hg19) ; chr12:g.57500339C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57500339C>A , CM000674.2:g.57500339C>A	GRCh38
NC_000012.11:g.57894122C>A , CM000674.1:g.57894122C>A	GRCh37
NC_000012.10:g.56180389C>A	NCBI36
NG_034077.1:g.17387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1110C>A MANE Select	ENSP00000262027.5:p.Phe370Leu
ENST00000262027.9:c.1110C>A	ENSP00000262027.5:p.Phe370Leu
ENST00000447721.6:n.752C>A
ENST00000537638.6:c.1110C>A	ENSP00000446168.2:p.Phe370Leu
ENST00000545888.6:c.*611C>A	ENSP00000439307.2:n.*611C>A
ENST00000549827.1:n.226C>A
ENST00000551892.1:c.*475C>A	ENSP00000450018.1:n.*475C>A
ENST00000552371.1:c.608C>A
ENST00000628866.2:c.*611C>A	ENSP00000486738.1:n.*611C>A
NM_004990.3:c.1110C>A	NP_004981.2:p.Phe370Leu
XM_006719398.2:c.408C>A	XP_006719461.1:p.Phe136Leu
XM_011538353.1:c.1110C>A	XP_011536655.1:p.Phe370Leu
XM_006719398.4:c.408C>A	XP_006719461.1:p.Phe136Leu
XR_001748704.2:n.1133C>A
XR_002957327.1:n.1057C>A
NM_004990.4:c.1110C>A MANE Select	NP_004981.2:p.Phe370Leu