Canonical Allele Identifier: CA2062448196
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561066C= , CM000674.2:g.109561066C= GRCh38
NC_000012.11:g.109998871C= , CM000674.1:g.109998871C= GRCh37
NC_000012.10:g.108483254C= NCBI36
NG_007096.1:g.17432G=

Transcript Alleles

HGVS Amino-acid change
ENST00000545712.7:c.558G= MANE Select ENSP00000445920.1:p.Arg186=
ENST00000537496.5:c.*123G= ENSP00000444793.1:n.*123G=
ENST00000540016.5:c.402G= ENSP00000474582.1:p.Arg134=
ENST00000541763.6:c.783G= ENSP00000474981.1:n.783G=
ENST00000544051.5:c.*439G= ENSP00000438079.1:n.*439G=
ENST00000545712.6:c.558G= ENSP00000445920.1:p.Arg186=
NM_052845.3:c.558G= NP_443077.1:p.Arg186=
NR_038118.1:n.718G=
XM_011538266.1:c.403G= XP_011536568.1:p.Gly135=
XM_011538267.1:c.403G= XP_011536569.1:p.Gly135=
XM_011538268.1:c.285G= XP_011536570.1:p.Arg95=
XM_011538269.1:c.282G= XP_011536571.1:p.Arg94=
XM_011538267.3:c.403G= XP_011536569.1:p.Gly135=
XM_011538268.2:c.285G= XP_011536570.1:p.Arg95=
XM_011538269.2:c.282G= XP_011536571.1:p.Arg94=
XM_024448961.1:c.558G= XP_024304729.1:p.Arg186=
NM_052845.4:c.558G= MANE Select NP_443077.1:p.Arg186=
NR_038118.2:n.669G=