Canonical Allele Identifier: CA2062455082
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568774T= , CM000674.2:g.109568774T= GRCh38
NC_000012.11:g.110006579T= , CM000674.1:g.110006579T= GRCh37
NC_000012.10:g.108490962T= NCBI36
NG_007096.1:g.9724A=
NG_007702.1:g.80T= , LRG_156:g.80T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.286A= MANE Select ENSP00000445920.1:p.Ile96=
ENST00000420167.6:c.*115A= ENSP00000416136.2:n.*115A=
ENST00000503497.7:c.286A= ENSP00000474881.1:p.Ile96=
ENST00000536760.1:n.289A=
ENST00000537236.2:c.286A= ENSP00000483818.1:p.Ile96=
ENST00000537496.5:c.286A= ENSP00000444793.1:p.Ile96=
ENST00000540016.5:c.135-3598A= ENSP00000474582.1:n.135-3598A=
ENST00000541763.6:c.286A= ENSP00000474981.1:p.Ile96=
ENST00000542390.5:n.313A=
ENST00000544051.5:c.*80A= ENSP00000438079.1:n.*80A=
ENST00000545712.6:c.286A= ENSP00000445920.1:p.Ile96=
NM_052845.3:c.286A= NP_443077.1:p.Ile96=
NR_038118.1:n.359A=
XM_024448961.1:c.286A= XP_024304729.1:p.Ile96=
NM_052845.4:c.286A= MANE Select NP_443077.1:p.Ile96=
NR_038118.2:n.310A=