Canonical Allele Identifier: CA2062443994
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557037C= , CM000674.2:g.109557037C= GRCh38
NC_000012.11:g.109994842C= , CM000674.1:g.109994842C= GRCh37
NC_000012.10:g.108479225C= NCBI36
NG_007096.1:g.21461G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.744G= MANE Select ENSP00000445920.1:p.Glu248=
ENST00000537496.5:c.*309G= ENSP00000444793.1:n.*309G=
ENST00000540016.5:c.588G= ENSP00000474582.1:p.Glu196=
ENST00000541763.6:c.969G= ENSP00000474981.1:n.969G=
ENST00000544051.5:c.*625G= ENSP00000438079.1:n.*625G=
ENST00000545712.6:c.744G= ENSP00000445920.1:p.Glu248=
NM_052845.3:c.744G= NP_443077.1:p.Glu248=
NR_038118.1:n.904G=
XM_011538266.1:c.*91G= XP_011536568.1:n.*91G=
XM_011538267.1:c.*91G= XP_011536569.1:n.*91G=
XM_011538268.1:c.471G= XP_011536570.1:p.Glu157=
XM_011538269.1:c.468G= XP_011536571.1:p.Glu156=
XM_011538267.3:c.*91G= XP_011536569.1:n.*91G=
XM_011538268.2:c.471G= XP_011536570.1:p.Glu157=
XM_011538269.2:c.468G= XP_011536571.1:p.Glu156=
NM_052845.4:c.744G= MANE Select NP_443077.1:p.Glu248=
NR_038118.2:n.855G=