Canonical Allele Identifier: CA2062455120
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568825C= , CM000674.2:g.109568825C= GRCh38
NC_000012.11:g.110006630C= , CM000674.1:g.110006630C= GRCh37
NC_000012.10:g.108491013C= NCBI36
NG_007096.1:g.9673G=
NG_007702.1:g.131C= , LRG_156:g.131C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.235G= MANE Select ENSP00000445920.1:p.Asp79=
ENST00000420167.6:c.*64G= ENSP00000416136.2:n.*64G=
ENST00000503497.7:c.235G= ENSP00000474881.1:p.Asp79=
ENST00000536760.1:n.238G=
ENST00000537236.2:c.235G= ENSP00000483818.1:p.Asp79=
ENST00000537496.5:c.235G= ENSP00000444793.1:p.Asp79=
ENST00000540016.5:c.135-3649G= ENSP00000474582.1:n.135-3649G=
ENST00000541763.6:c.235G= ENSP00000474981.1:p.Asp79=
ENST00000542390.5:n.262G=
ENST00000544051.5:c.*29G= ENSP00000438079.1:n.*29G=
ENST00000545712.6:c.235G= ENSP00000445920.1:p.Asp79=
NM_052845.3:c.235G= NP_443077.1:p.Asp79=
NR_038118.1:n.308G=
XM_024448961.1:c.235G= XP_024304729.1:p.Asp79=
NM_052845.4:c.235G= MANE Select NP_443077.1:p.Asp79=
NR_038118.2:n.259G=