Canonical Allele Identifier: CA2062444104
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557089T= , CM000674.2:g.109557089T= GRCh38
NC_000012.11:g.109994894T= , CM000674.1:g.109994894T= GRCh37
NC_000012.10:g.108479277T= NCBI36
NG_007096.1:g.21409A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.692A= MANE Select ENSP00000445920.1:p.Glu231=
ENST00000537496.5:c.*257A= ENSP00000444793.1:n.*257A=
ENST00000540016.5:c.536A= ENSP00000474582.1:p.Glu179=
ENST00000541763.6:c.917A= ENSP00000474981.1:n.917A=
ENST00000544051.5:c.*573A= ENSP00000438079.1:n.*573A=
ENST00000545712.6:c.692A= ENSP00000445920.1:p.Glu231=
NM_052845.3:c.692A= NP_443077.1:p.Glu231=
NR_038118.1:n.852A=
XM_011538266.1:c.*39A= XP_011536568.1:n.*39A=
XM_011538267.1:c.*39A= XP_011536569.1:n.*39A=
XM_011538268.1:c.419A= XP_011536570.1:p.Glu140=
XM_011538269.1:c.416A= XP_011536571.1:p.Glu139=
XM_011538267.3:c.*39A= XP_011536569.1:n.*39A=
XM_011538268.2:c.419A= XP_011536570.1:p.Glu140=
XM_011538269.2:c.416A= XP_011536571.1:p.Glu139=
NM_052845.4:c.692A= MANE Select NP_443077.1:p.Glu231=
NR_038118.2:n.803A=