Canonical Allele Identifier: CA9376055
Community Standard Title: NM_002361.4(MAG):c.600A>T (p.Ser200=)
Gene: MAG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35299738A>T , CM000681.2:g.35299738A>T GRCh38
NC_000019.9:g.35790641A>T , CM000681.1:g.35790641A>T GRCh37
NC_000019.8:g.40482481A>T NCBI36
NG_034078.1:g.12653A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002361.4:c.600A>T MANE Select NP_002352.1:p.Ser200=
ENST00000392213.8:c.600A>T MANE Select ENSP00000376048.2:p.Ser200=
NM_001199216.1:c.525A>T NP_001186145.1:p.Ser175=
NM_001199216.2:c.525A>T NP_001186145.1:p.Ser175=
NM_002361.3:c.600A>T NP_002352.1:p.Ser200=
NM_080600.2:c.600A>T NP_542167.1:p.Ser200=
NM_080600.3:c.600A>T NP_542167.1:p.Ser200=
ENST00000361922.8:c.600A>T ENSP00000355234.4:p.Ser200=
ENST00000392213.7:c.600A>T ENSP00000376048.2:p.Ser200=
ENST00000537831.2:c.525A>T ENSP00000440695.1:p.Ser175=
ENST00000597035.5:c.*184A>T ENSP00000473245.1:n.*184A>T