Canonical Allele Identifier: CA2062448209
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561068G= , CM000674.2:g.109561068G= GRCh38
NC_000012.11:g.109998873G= , CM000674.1:g.109998873G= GRCh37
NC_000012.10:g.108483256G= NCBI36
NG_007096.1:g.17430C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.556C= MANE Select ENSP00000445920.1:p.Arg186=
ENST00000537496.5:c.*121C= ENSP00000444793.1:n.*121C=
ENST00000540016.5:c.400C= ENSP00000474582.1:p.Arg134=
ENST00000541763.6:c.781C= ENSP00000474981.1:n.781C=
ENST00000544051.5:c.*437C= ENSP00000438079.1:n.*437C=
ENST00000545712.6:c.556C= ENSP00000445920.1:p.Arg186=
NM_052845.3:c.556C= NP_443077.1:p.Arg186=
NR_038118.1:n.716C=
XM_011538266.1:c.401C= XP_011536568.1:p.Pro134=
XM_011538267.1:c.401C= XP_011536569.1:p.Pro134=
XM_011538268.1:c.283C= XP_011536570.1:p.Arg95=
XM_011538269.1:c.280C= XP_011536571.1:p.Arg94=
XM_011538267.3:c.401C= XP_011536569.1:p.Pro134=
XM_011538268.2:c.283C= XP_011536570.1:p.Arg95=
XM_011538269.2:c.280C= XP_011536571.1:p.Arg94=
XM_024448961.1:c.556C= XP_024304729.1:p.Arg186=
NM_052845.4:c.556C= MANE Select NP_443077.1:p.Arg186=
NR_038118.2:n.667C=