Canonical Allele Identifier: CA2062448174
Community Standard Title: NM_052845.4(MMAB):c.563T= (p.Val188=)
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561061A= , CM000674.2:g.109561061A= GRCh38
NC_000012.11:g.109998866A= , CM000674.1:g.109998866A= GRCh37
NC_000012.10:g.108483249A= NCBI36
NG_007096.1:g.17437T=

Transcript Alleles

HGVS Amino-acid Change
NM_052845.4:c.563T= MANE Select NP_443077.1:p.Val188=
ENST00000545712.7:c.563T= MANE Select ENSP00000445920.1:p.Val188=
NM_052845.3:c.563T= NP_443077.1:p.Val188=
NR_038118.1:n.723T=
NR_038118.2:n.674T=
ENST00000537496.5:c.*128T= ENSP00000444793.1:n.*128T=
ENST00000540016.5:c.407T= ENSP00000474582.1:p.Val136=
ENST00000541763.6:c.788T= ENSP00000474981.1:n.788T=
ENST00000544051.5:c.*444T= ENSP00000438079.1:n.*444T=
ENST00000545712.6:c.563T= ENSP00000445920.1:p.Val188=
XM_011538266.1:c.408T= XP_011536568.1:p.Arg136=
XM_011538267.1:c.408T= XP_011536569.1:p.Arg136=
XM_011538267.3:c.408T= XP_011536569.1:p.Arg136=
XM_011538268.1:c.290T= XP_011536570.1:p.Val97=
XM_011538268.2:c.290T= XP_011536570.1:p.Val97=
XM_011538269.1:c.287T= XP_011536571.1:p.Val96=
XM_011538269.2:c.287T= XP_011536571.1:p.Val96=
XM_024448961.1:c.563T= XP_024304729.1:p.Val188=