Canonical Allele Identifier: CA9376404
Community Standard Title: NM_002361.4(MAG):c.1719C>T (p.Ser573=)
Gene: MAG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35313292C>T , CM000681.2:g.35313292C>T GRCh38
NC_000019.9:g.35804195C>T , CM000681.1:g.35804195C>T GRCh37
NC_000019.8:g.40496035C>T NCBI36
NG_034078.1:g.26207C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002361.4:c.1719C>T MANE Select NP_002352.1:p.Ser573=
ENST00000392213.8:c.1719C>T MANE Select ENSP00000376048.2:p.Ser573=
NM_001199216.1:c.1644C>T NP_001186145.1:p.Ser548=
NM_001199216.2:c.1644C>T NP_001186145.1:p.Ser548=
NM_002361.3:c.1719C>T NP_002352.1:p.Ser573=
NM_080600.2:c.*15C>T NP_542167.1:n.*15C>T
NM_080600.3:c.*15C>T NP_542167.1:n.*15C>T
ENST00000361922.8:c.*15C>T ENSP00000355234.4:n.*15C>T
ENST00000392213.7:c.1719C>T ENSP00000376048.2:p.Ser573=
ENST00000537831.2:c.1644C>T ENSP00000440695.1:p.Ser548=