Canonical Allele Identifier: CA405316612

Gene: MAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35310549C>T , CM000681.2:g.35310549C>T	GRCh38
NC_000019.9:g.35801452C>T , CM000681.1:g.35801452C>T	GRCh37
NC_000019.8:g.40493292C>T	NCBI36
NG_034078.1:g.23464C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002361.4:c.1522C>T MANE Select	NP_002352.1:p.Arg508Ter
ENST00000392213.8:c.1522C>T MANE Select	ENSP00000376048.2:p.Arg508Ter
NM_001199216.1:c.1447C>T	NP_001186145.1:p.Arg483Ter
NM_001199216.2:c.1447C>T	NP_001186145.1:p.Arg483Ter
NM_002361.3:c.1522C>T	NP_002352.1:p.Arg508Ter
NM_080600.2:c.1522C>T	NP_542167.1:p.Arg508Ter
NM_080600.3:c.1522C>T	NP_542167.1:p.Arg508Ter
ENST00000361922.8:c.1522C>T	ENSP00000355234.4:p.Arg508Ter
ENST00000392213.7:c.1522C>T	ENSP00000376048.2:p.Arg508Ter
ENST00000537831.2:c.1447C>T	ENSP00000440695.1:p.Arg483Ter
ENST00000593348.1:n.359C>T