Canonical Allele Identifier: CA386635774
Gene: MMAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557130A>T , CM000674.2:g.109557130A>T GRCh38
NC_000012.11:g.109994935A>T , CM000674.1:g.109994935A>T GRCh37
NC_000012.10:g.108479318A>T NCBI36
NG_007096.1:g.21368T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.651T>A MANE Select ENSP00000445920.1:p.Ser217Arg
ENST00000537496.5:c.*216T>A ENSP00000444793.1:n.*216T>A
ENST00000540016.5:c.495T>A ENSP00000474582.1:p.Ser165Arg
ENST00000541763.6:c.876T>A ENSP00000474981.1:n.876T>A
ENST00000544051.5:c.*532T>A ENSP00000438079.1:n.*532T>A
ENST00000545712.6:c.651T>A ENSP00000445920.1:p.Ser217Arg
NM_052845.3:c.651T>A NP_443077.1:p.Ser217Arg
NR_038118.1:n.811T>A
XM_011538266.1:c.496T>A XP_011536568.1:p.Ter166Arg
XM_011538267.1:c.496T>A XP_011536569.1:p.Ter166Arg
XM_011538268.1:c.378T>A XP_011536570.1:p.Ser126Arg
XM_011538269.1:c.375T>A XP_011536571.1:p.Ser125Arg
XM_011538267.3:c.496T>A XP_011536569.1:p.Ter166Arg
XM_011538268.2:c.378T>A XP_011536570.1:p.Ser126Arg
XM_011538269.2:c.375T>A XP_011536571.1:p.Ser125Arg
NM_052845.4:c.651T>A MANE Select NP_443077.1:p.Ser217Arg
NR_038118.2:n.762T>A