Canonical Allele Identifier: CA2062448136
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561052C= , CM000674.2:g.109561052C= GRCh38
NC_000012.11:g.109998857C= , CM000674.1:g.109998857C= GRCh37
NC_000012.10:g.108483240C= NCBI36
NG_007096.1:g.17446G=

Transcript Alleles

HGVS Amino-acid Change
NM_052845.4:c.572G= MANE Select NP_443077.1:p.Arg191=
ENST00000545712.7:c.572G= MANE Select ENSP00000445920.1:p.Arg191=
NM_052845.3:c.572G= NP_443077.1:p.Arg191=
NR_038118.1:n.732G=
NR_038118.2:n.683G=
ENST00000537496.5:c.*137G= ENSP00000444793.1:n.*137G=
ENST00000540016.5:c.416G= ENSP00000474582.1:p.Arg139=
ENST00000541763.6:c.797G= ENSP00000474981.1:n.797G=
ENST00000544051.5:c.*453G= ENSP00000438079.1:n.*453G=
ENST00000545712.6:c.572G= ENSP00000445920.1:p.Arg191=
XM_011538266.1:c.417G= XP_011536568.1:p.Pro139=
XM_011538267.1:c.417G= XP_011536569.1:p.Pro139=
XM_011538267.3:c.417G= XP_011536569.1:p.Pro139=
XM_011538268.1:c.299G= XP_011536570.1:p.Arg100=
XM_011538268.2:c.299G= XP_011536570.1:p.Arg100=
XM_011538269.1:c.296G= XP_011536571.1:p.Arg99=
XM_011538269.2:c.296G= XP_011536571.1:p.Arg99=
XM_024448961.1:c.572G= XP_024304729.1:p.Arg191=