Canonical Allele Identifier: CA9376056

Gene: MAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35299741G>A , CM000681.2:g.35299741G>A	GRCh38
NC_000019.9:g.35790644G>A , CM000681.1:g.35790644G>A	GRCh37
NC_000019.8:g.40482484G>A	NCBI36
NG_034078.1:g.12656G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002361.4:c.603G>A MANE Select	NP_002352.1:p.Leu201=
ENST00000392213.8:c.603G>A MANE Select	ENSP00000376048.2:p.Leu201=
NM_001199216.1:c.528G>A	NP_001186145.1:p.Leu176=
NM_001199216.2:c.528G>A	NP_001186145.1:p.Leu176=
NM_002361.3:c.603G>A	NP_002352.1:p.Leu201=
NM_080600.2:c.603G>A	NP_542167.1:p.Leu201=
NM_080600.3:c.603G>A	NP_542167.1:p.Leu201=
ENST00000361922.8:c.603G>A	ENSP00000355234.4:p.Leu201=
ENST00000392213.7:c.603G>A	ENSP00000376048.2:p.Leu201=
ENST00000537831.2:c.528G>A	ENSP00000440695.1:p.Leu176=
ENST00000597035.5:c.*187G>A	ENSP00000473245.1:n.*187G>A