Canonical Allele Identifier: CA2062444061
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557067G= , CM000674.2:g.109557067G= GRCh38
NC_000012.11:g.109994872G= , CM000674.1:g.109994872G= GRCh37
NC_000012.10:g.108479255G= NCBI36
NG_007096.1:g.21431C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.714C= MANE Select ENSP00000445920.1:p.Tyr238=
ENST00000537496.5:c.*279C= ENSP00000444793.1:n.*279C=
ENST00000540016.5:c.558C= ENSP00000474582.1:p.Tyr186=
ENST00000541763.6:c.939C= ENSP00000474981.1:n.939C=
ENST00000544051.5:c.*595C= ENSP00000438079.1:n.*595C=
ENST00000545712.6:c.714C= ENSP00000445920.1:p.Tyr238=
NM_052845.3:c.714C= NP_443077.1:p.Tyr238=
NR_038118.1:n.874C=
XM_011538266.1:c.*61C= XP_011536568.1:n.*61C=
XM_011538267.1:c.*61C= XP_011536569.1:n.*61C=
XM_011538268.1:c.441C= XP_011536570.1:p.Tyr147=
XM_011538269.1:c.438C= XP_011536571.1:p.Tyr146=
XM_011538267.3:c.*61C= XP_011536569.1:n.*61C=
XM_011538268.2:c.441C= XP_011536570.1:p.Tyr147=
XM_011538269.2:c.438C= XP_011536571.1:p.Tyr146=
NM_052845.4:c.714C= MANE Select NP_443077.1:p.Tyr238=
NR_038118.2:n.825C=