Canonical Allele Identifier: CA2062444025
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557051A= , CM000674.2:g.109557051A= GRCh38
NC_000012.11:g.109994856A= , CM000674.1:g.109994856A= GRCh37
NC_000012.10:g.108479239A= NCBI36
NG_007096.1:g.21447T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.730T= MANE Select ENSP00000445920.1:p.Ser244=
ENST00000537496.5:c.*295T= ENSP00000444793.1:n.*295T=
ENST00000540016.5:c.574T= ENSP00000474582.1:p.Ser192=
ENST00000541763.6:c.955T= ENSP00000474981.1:n.955T=
ENST00000544051.5:c.*611T= ENSP00000438079.1:n.*611T=
ENST00000545712.6:c.730T= ENSP00000445920.1:p.Ser244=
NM_052845.3:c.730T= NP_443077.1:p.Ser244=
NR_038118.1:n.890T=
XM_011538266.1:c.*77T= XP_011536568.1:n.*77T=
XM_011538267.1:c.*77T= XP_011536569.1:n.*77T=
XM_011538268.1:c.457T= XP_011536570.1:p.Ser153=
XM_011538269.1:c.454T= XP_011536571.1:p.Ser152=
XM_011538267.3:c.*77T= XP_011536569.1:n.*77T=
XM_011538268.2:c.457T= XP_011536570.1:p.Ser153=
XM_011538269.2:c.454T= XP_011536571.1:p.Ser152=
NM_052845.4:c.730T= MANE Select NP_443077.1:p.Ser244=
NR_038118.2:n.841T=