Canonical Allele Identifier: CA2062449119
Community Standard Title: NM_052845.4(MMAB):c.403G= (p.Ala135=)
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561798C= , CM000674.2:g.109561798C= GRCh38
NC_000012.11:g.109999603C= , CM000674.1:g.109999603C= GRCh37
NC_000012.10:g.108483986C= NCBI36
NG_007096.1:g.16700G=

Transcript Alleles

HGVS Amino-acid Change
NM_052845.4:c.403G= MANE Select NP_443077.1:p.Ala135=
ENST00000545712.7:c.403G= MANE Select ENSP00000445920.1:p.Ala135=
NM_052845.3:c.403G= NP_443077.1:p.Ala135=
NR_038118.1:n.476G=
NR_038118.2:n.427G=
ENST00000420167.6:c.*232G= ENSP00000416136.2:n.*232G=
ENST00000537496.5:c.403G= ENSP00000444793.1:p.Ala135=
ENST00000540016.5:c.247G= ENSP00000474582.1:p.Ala83=
ENST00000541763.6:c.403G= ENSP00000474981.1:p.Ala135=
ENST00000542390.5:n.430G=
ENST00000544051.5:c.*197G= ENSP00000438079.1:n.*197G=
ENST00000545712.6:c.403G= ENSP00000445920.1:p.Ala135=
XM_011538266.1:c.161G= XP_011536568.1:p.Gly54=
XM_011538267.1:c.161G= XP_011536569.1:p.Gly54=
XM_011538267.3:c.161G= XP_011536569.1:p.Gly54=
XM_011538268.1:c.130G= XP_011536570.1:p.Ala44=
XM_011538268.2:c.130G= XP_011536570.1:p.Ala44=
XM_011538269.1:c.127G= XP_011536571.1:p.Ala43=
XM_011538269.2:c.127G= XP_011536571.1:p.Ala43=
XM_024448961.1:c.403G= XP_024304729.1:p.Ala135=