Canonical Allele Identifier: CA2062455052
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568739G= , CM000674.2:g.109568739G= GRCh38
NC_000012.11:g.110006544G= , CM000674.1:g.110006544G= GRCh37
NC_000012.10:g.108490927G= NCBI36
NG_007096.1:g.9759C=
NG_007702.1:g.45G= , LRG_156:g.45G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.290+31C= MANE Select ENSP00000445920.1:n.290+31C=
ENST00000420167.6:c.*119+31C= ENSP00000416136.2:n.*119+31C=
ENST00000503497.7:c.290+31C= ENSP00000474881.1:n.290+31C=
ENST00000536760.1:n.293+31C=
ENST00000537236.2:c.*27C= ENSP00000483818.1:n.*27C=
ENST00000537496.5:c.290+31C= ENSP00000444793.1:n.290+31C=
ENST00000540016.5:c.135-3563C= ENSP00000474582.1:n.135-3563C=
ENST00000541763.6:c.290+31C= ENSP00000474981.1:n.290+31C=
ENST00000542390.5:n.317+31C=
ENST00000544051.5:c.*84+31C= ENSP00000438079.1:n.*84+31C=
ENST00000545712.6:c.290+31C= ENSP00000445920.1:n.290+31C=
NM_052845.3:c.290+31C= NP_443077.1:n.290+31C=
NR_038118.1:n.363+31C=
XM_011538266.1:c.-437C= XP_011536568.1:n.-437C=
XM_011538267.1:c.-326C= XP_011536569.1:n.-326C=
XM_011538267.3:c.-326C= XP_011536569.1:n.-326C=
XM_011538269.2:c.-471C= XP_011536571.1:n.-471C=
XM_024448961.1:c.290+31C= XP_024304729.1:n.290+31C=
NM_052845.4:c.290+31C= MANE Select NP_443077.1:n.290+31C=
NR_038118.2:n.314+31C=