Canonical Allele Identifier: CA2062444003
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557045C= , CM000674.2:g.109557045C= GRCh38
NC_000012.11:g.109994850C= , CM000674.1:g.109994850C= GRCh37
NC_000012.10:g.108479233C= NCBI36
NG_007096.1:g.21453G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.736G= MANE Select ENSP00000445920.1:p.Glu246=
ENST00000537496.5:c.*301G= ENSP00000444793.1:n.*301G=
ENST00000540016.5:c.580G= ENSP00000474582.1:p.Glu194=
ENST00000541763.6:c.961G= ENSP00000474981.1:n.961G=
ENST00000544051.5:c.*617G= ENSP00000438079.1:n.*617G=
ENST00000545712.6:c.736G= ENSP00000445920.1:p.Glu246=
NM_052845.3:c.736G= NP_443077.1:p.Glu246=
NR_038118.1:n.896G=
XM_011538266.1:c.*83G= XP_011536568.1:n.*83G=
XM_011538267.1:c.*83G= XP_011536569.1:n.*83G=
XM_011538268.1:c.463G= XP_011536570.1:p.Glu155=
XM_011538269.1:c.460G= XP_011536571.1:p.Glu154=
XM_011538267.3:c.*83G= XP_011536569.1:n.*83G=
XM_011538268.2:c.463G= XP_011536570.1:p.Glu155=
XM_011538269.2:c.460G= XP_011536571.1:p.Glu154=
NM_052845.4:c.736G= MANE Select NP_443077.1:p.Glu246=
NR_038118.2:n.847G=