Canonical Allele Identifier: CA2062444080
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557078C= , CM000674.2:g.109557078C= GRCh38
NC_000012.11:g.109994883C= , CM000674.1:g.109994883C= GRCh37
NC_000012.10:g.108479266C= NCBI36
NG_007096.1:g.21420G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.703G= MANE Select ENSP00000445920.1:p.Glu235=
ENST00000537496.5:c.*268G= ENSP00000444793.1:n.*268G=
ENST00000540016.5:c.547G= ENSP00000474582.1:p.Glu183=
ENST00000541763.6:c.928G= ENSP00000474981.1:n.928G=
ENST00000544051.5:c.*584G= ENSP00000438079.1:n.*584G=
ENST00000545712.6:c.703G= ENSP00000445920.1:p.Glu235=
NM_052845.3:c.703G= NP_443077.1:p.Glu235=
NR_038118.1:n.863G=
XM_011538266.1:c.*50G= XP_011536568.1:n.*50G=
XM_011538267.1:c.*50G= XP_011536569.1:n.*50G=
XM_011538268.1:c.430G= XP_011536570.1:p.Glu144=
XM_011538269.1:c.427G= XP_011536571.1:p.Glu143=
XM_011538267.3:c.*50G= XP_011536569.1:n.*50G=
XM_011538268.2:c.430G= XP_011536570.1:p.Glu144=
XM_011538269.2:c.427G= XP_011536571.1:p.Glu143=
NM_052845.4:c.703G= MANE Select NP_443077.1:p.Glu235=
NR_038118.2:n.814G=