Canonical Allele Identifier: CA2062458443
Community Standard Title: NM_052845.4(MMAB):c.134+112T=
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109573235A= , CM000674.2:g.109573235A= GRCh38
NC_000012.11:g.110011040A= , CM000674.1:g.110011040A= GRCh37
NC_000012.10:g.108495423A= NCBI36
NG_007096.1:g.5263T=
NG_007702.1:g.4541A= , LRG_156:g.4541A=

Transcript Alleles

HGVS Amino-acid Change
NM_052845.4:c.134+112T= MANE Select NP_443077.1:n.134+112T=
ENST00000545712.7:c.134+112T= MANE Select ENSP00000445920.1:n.134+112T=
NM_052845.3:c.134+112T= NP_443077.1:n.134+112T=
NR_038118.1:n.207+112T=
NR_038118.2:n.158+112T=
ENST00000420167.6:c.134+112T= ENSP00000416136.2:n.134+112T=
ENST00000503497.7:c.134+112T= ENSP00000474881.1:n.134+112T=
ENST00000536760.1:n.137+112T=
ENST00000537236.2:c.134+112T= ENSP00000483818.1:n.134+112T=
ENST00000537496.5:c.134+112T= ENSP00000444793.1:n.134+112T=
ENST00000540016.5:c.134+112T= ENSP00000474582.1:n.134+112T=
ENST00000541763.6:c.134+112T= ENSP00000474981.1:n.134+112T=
ENST00000542390.5:n.161+112T=
ENST00000544051.5:c.134+112T= ENSP00000438079.1:n.134+112T=
ENST00000545712.6:c.134+112T= ENSP00000445920.1:n.134+112T=
XM_024448961.1:c.134+112T= XP_024304729.1:n.134+112T=