Canonical Allele Identifier: CA2062444032
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557053G= , CM000674.2:g.109557053G= GRCh38
NC_000012.11:g.109994858G= , CM000674.1:g.109994858G= GRCh37
NC_000012.10:g.108479241G= NCBI36
NG_007096.1:g.21445C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.728C= MANE Select ENSP00000445920.1:p.Pro243=
ENST00000537496.5:c.*293C= ENSP00000444793.1:n.*293C=
ENST00000540016.5:c.572C= ENSP00000474582.1:p.Pro191=
ENST00000541763.6:c.953C= ENSP00000474981.1:n.953C=
ENST00000544051.5:c.*609C= ENSP00000438079.1:n.*609C=
ENST00000545712.6:c.728C= ENSP00000445920.1:p.Pro243=
NM_052845.3:c.728C= NP_443077.1:p.Pro243=
NR_038118.1:n.888C=
XM_011538266.1:c.*75C= XP_011536568.1:n.*75C=
XM_011538267.1:c.*75C= XP_011536569.1:n.*75C=
XM_011538268.1:c.455C= XP_011536570.1:p.Pro152=
XM_011538269.1:c.452C= XP_011536571.1:p.Pro151=
XM_011538267.3:c.*75C= XP_011536569.1:n.*75C=
XM_011538268.2:c.455C= XP_011536570.1:p.Pro152=
XM_011538269.2:c.452C= XP_011536571.1:p.Pro151=
NM_052845.4:c.728C= MANE Select NP_443077.1:p.Pro243=
NR_038118.2:n.839C=