Canonical Allele Identifier: CA1630855768
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557065A= , CM000674.2:g.109557065A= GRCh38
NC_000012.11:g.109994870A= , CM000674.1:g.109994870A= GRCh37
NC_000012.10:g.108479253A= NCBI36
NG_007096.1:g.21433T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.716T= MANE Select ENSP00000445920.1:p.Met239=
ENST00000537496.5:c.*281T= ENSP00000444793.1:n.*281T=
ENST00000540016.5:c.560T= ENSP00000474582.1:p.Met187=
ENST00000541763.6:c.941T= ENSP00000474981.1:n.941T=
ENST00000544051.5:c.*597T= ENSP00000438079.1:n.*597T=
ENST00000545712.6:c.716T= ENSP00000445920.1:p.Met239=
NM_052845.3:c.716T= NP_443077.1:p.Met239=
NR_038118.1:n.876T=
XM_011538266.1:c.*63T= XP_011536568.1:n.*63T=
XM_011538267.1:c.*63T= XP_011536569.1:n.*63T=
XM_011538268.1:c.443T= XP_011536570.1:p.Met148=
XM_011538269.1:c.440T= XP_011536571.1:p.Met147=
XM_011538267.3:c.*63T= XP_011536569.1:n.*63T=
XM_011538268.2:c.443T= XP_011536570.1:p.Met148=
XM_011538269.2:c.440T= XP_011536571.1:p.Met147=
NM_052845.4:c.716T= MANE Select NP_443077.1:p.Met239=
NR_038118.2:n.827T=