Canonical Allele Identifier: CA2062448100
Community Standard Title: NM_052845.4(MMAB):c.584G= (p.Arg195=)
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561040C= , CM000674.2:g.109561040C= GRCh38
NC_000012.11:g.109998845C= , CM000674.1:g.109998845C= GRCh37
NC_000012.10:g.108483228C= NCBI36
NG_007096.1:g.17458G=

Transcript Alleles

HGVS Amino-acid Change
NM_052845.4:c.584G= MANE Select NP_443077.1:p.Arg195=
ENST00000545712.7:c.584G= MANE Select ENSP00000445920.1:p.Arg195=
NM_052845.3:c.584G= NP_443077.1:p.Arg195=
NR_038118.1:n.744G=
NR_038118.2:n.695G=
ENST00000537496.5:c.*149G= ENSP00000444793.1:n.*149G=
ENST00000540016.5:c.428G= ENSP00000474582.1:p.Arg143=
ENST00000541763.6:c.809G= ENSP00000474981.1:n.809G=
ENST00000544051.5:c.*465G= ENSP00000438079.1:n.*465G=
ENST00000545712.6:c.584G= ENSP00000445920.1:p.Arg195=
XM_011538266.1:c.429G= XP_011536568.1:p.Thr143=
XM_011538267.1:c.429G= XP_011536569.1:p.Thr143=
XM_011538267.3:c.429G= XP_011536569.1:p.Thr143=
XM_011538268.1:c.311G= XP_011536570.1:p.Arg104=
XM_011538268.2:c.311G= XP_011536570.1:p.Arg104=
XM_011538269.1:c.308G= XP_011536571.1:p.Arg103=
XM_011538269.2:c.308G= XP_011536571.1:p.Arg103=
XM_024448961.1:c.584G= XP_024304729.1:p.Arg195=