Canonical Allele Identifier: CA2062448406
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561227G= , CM000674.2:g.109561227G= GRCh38
NC_000012.11:g.109999032G= , CM000674.1:g.109999032G= GRCh37
NC_000012.10:g.108483415G= NCBI36
NG_007096.1:g.17271C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.520-123C= MANE Select ENSP00000445920.1:n.520-123C=
ENST00000537496.5:c.*84+16C= ENSP00000444793.1:n.*84+16C=
ENST00000540016.5:c.364-123C= ENSP00000474582.1:n.364-123C=
ENST00000541763.6:c.622C= ENSP00000474981.1:n.622C=
ENST00000544051.5:c.*400+16C= ENSP00000438079.1:n.*400+16C=
ENST00000545712.6:c.520-123C= ENSP00000445920.1:n.520-123C=
NM_052845.3:c.520-123C= NP_443077.1:n.520-123C=
NR_038118.1:n.679+16C=
XM_011538266.1:c.364+16C= XP_011536568.1:n.364+16C=
XM_011538267.1:c.364+16C= XP_011536569.1:n.364+16C=
XM_011538268.1:c.247-123C= XP_011536570.1:n.247-123C=
XM_011538269.1:c.244-123C= XP_011536571.1:n.244-123C=
XM_011538267.3:c.364+16C= XP_011536569.1:n.364+16C=
XM_011538268.2:c.247-123C= XP_011536570.1:n.247-123C=
XM_011538269.2:c.244-123C= XP_011536571.1:n.244-123C=
XM_024448961.1:c.520-123C= XP_024304729.1:n.520-123C=
NM_052845.4:c.520-123C= MANE Select NP_443077.1:n.520-123C=
NR_038118.2:n.630+16C=