Canonical Allele Identifier: CA2062448378
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561200G= , CM000674.2:g.109561200G= GRCh38
NC_000012.11:g.109999005G= , CM000674.1:g.109999005G= GRCh37
NC_000012.10:g.108483388G= NCBI36
NG_007096.1:g.17298C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.520-96C= MANE Select ENSP00000445920.1:n.520-96C=
ENST00000537496.5:c.*84+43C= ENSP00000444793.1:n.*84+43C=
ENST00000540016.5:c.364-96C= ENSP00000474582.1:n.364-96C=
ENST00000541763.6:c.649C= ENSP00000474981.1:n.649C=
ENST00000544051.5:c.*400+43C= ENSP00000438079.1:n.*400+43C=
ENST00000545712.6:c.520-96C= ENSP00000445920.1:n.520-96C=
NM_052845.3:c.520-96C= NP_443077.1:n.520-96C=
NR_038118.1:n.679+43C=
XM_011538266.1:c.364+43C= XP_011536568.1:n.364+43C=
XM_011538267.1:c.364+43C= XP_011536569.1:n.364+43C=
XM_011538268.1:c.247-96C= XP_011536570.1:n.247-96C=
XM_011538269.1:c.244-96C= XP_011536571.1:n.244-96C=
XM_011538267.3:c.364+43C= XP_011536569.1:n.364+43C=
XM_011538268.2:c.247-96C= XP_011536570.1:n.247-96C=
XM_011538269.2:c.244-96C= XP_011536571.1:n.244-96C=
XM_024448961.1:c.520-96C= XP_024304729.1:n.520-96C=
NM_052845.4:c.520-96C= MANE Select NP_443077.1:n.520-96C=
NR_038118.2:n.630+43C=