Canonical Allele Identifier: CA2619466005

Gene: MARS1

Linked Data

• gnomAD v4: 12-57512649-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512649C>A , CM000674.2:g.57512649C>A	GRCh38
NC_000012.11:g.57906432C>A , CM000674.1:g.57906432C>A	GRCh37
NC_000012.10:g.56192699C>A	NCBI36
NG_034077.1:g.29697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1754-102C>A MANE Select	ENSP00000262027.5:n.1754-102C>A
ENST00000262027.9:c.1754-102C>A	ENSP00000262027.5:n.1754-102C>A
ENST00000537638.6:c.*46-102C>A	ENSP00000446168.2:n.*46-102C>A
ENST00000545888.6:c.*1255-102C>A	ENSP00000439307.2:n.*1255-102C>A
ENST00000546971.5:n.498-102C>A
ENST00000548202.5:n.159C>A
ENST00000548944.1:c.134-3846C>A	ENSP00000449071.1:n.134-3846C>A
ENST00000549048.1:n.419-102C>A
ENST00000628866.2:c.*1255-102C>A	ENSP00000486738.1:n.*1255-102C>A
NM_004990.3:c.1754-102C>A	NP_004981.2:n.1754-102C>A
XM_006719398.2:c.1052-102C>A	XP_006719461.1:n.1052-102C>A
XM_011538353.1:c.*46-102C>A	XP_011536655.1:n.*46-102C>A
XM_006719398.4:c.1052-102C>A	XP_006719461.1:n.1052-102C>A
XR_001748704.2:n.1710-102C>A
XR_002957327.1:n.1701-102C>A
NM_004990.4:c.1754-102C>A MANE Select	NP_004981.2:n.1754-102C>A