Canonical Allele Identifier: CA2575285373
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109556992A>T , CM000674.2:g.109556992A>T GRCh38
NC_000012.11:g.109994797A>T , CM000674.1:g.109994797A>T GRCh37
NC_000012.10:g.108479180A>T NCBI36
NG_007096.1:g.21506T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.*36T>A MANE Select ENSP00000445920.1:n.*36T>A
ENST00000537496.5:c.*354T>A ENSP00000444793.1:n.*354T>A
ENST00000540016.5:c.*36T>A ENSP00000474582.1:n.*36T>A
ENST00000541763.6:c.1014T>A ENSP00000474981.1:n.1014T>A
ENST00000544051.5:c.*670T>A ENSP00000438079.1:n.*670T>A
ENST00000545712.6:c.*36T>A ENSP00000445920.1:n.*36T>A
NM_052845.3:c.*36T>A NP_443077.1:n.*36T>A
NR_038118.1:n.949T>A
XM_011538266.1:c.*136T>A XP_011536568.1:n.*136T>A
XM_011538267.1:c.*136T>A XP_011536569.1:n.*136T>A
XM_011538268.1:c.*36T>A XP_011536570.1:n.*36T>A
XM_011538269.1:c.*36T>A XP_011536571.1:n.*36T>A
XM_011538267.3:c.*136T>A XP_011536569.1:n.*136T>A
XM_011538268.2:c.*36T>A XP_011536570.1:n.*36T>A
XM_011538269.2:c.*36T>A XP_011536571.1:n.*36T>A
NM_052845.4:c.*36T>A MANE Select NP_443077.1:n.*36T>A
NR_038118.2:n.900T>A