Canonical Allele Identifier: CA9376057

Gene: MAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35299742C>A , CM000681.2:g.35299742C>A	GRCh38
NC_000019.9:g.35790645C>A , CM000681.1:g.35790645C>A	GRCh37
NC_000019.8:g.40482485C>A	NCBI36
NG_034078.1:g.12657C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002361.4:c.604C>A MANE Select	NP_002352.1:p.Leu202Met
ENST00000392213.8:c.604C>A MANE Select	ENSP00000376048.2:p.Leu202Met
NM_001199216.1:c.529C>A	NP_001186145.1:p.Leu177Met
NM_001199216.2:c.529C>A	NP_001186145.1:p.Leu177Met
NM_002361.3:c.604C>A	NP_002352.1:p.Leu202Met
NM_080600.2:c.604C>A	NP_542167.1:p.Leu202Met
NM_080600.3:c.604C>A	NP_542167.1:p.Leu202Met
ENST00000361922.8:c.604C>A	ENSP00000355234.4:p.Leu202Met
ENST00000392213.7:c.604C>A	ENSP00000376048.2:p.Leu202Met
ENST00000537831.2:c.529C>A	ENSP00000440695.1:p.Leu177Met
ENST00000597035.5:c.*188C>A	ENSP00000473245.1:n.*188C>A