Canonical Allele Identifier: CA2620810077
Gene: MMAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557024G>T , CM000674.2:g.109557024G>T GRCh38
NC_000012.11:g.109994829G>T , CM000674.1:g.109994829G>T GRCh37
NC_000012.10:g.108479212G>T NCBI36
NG_007096.1:g.21474C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.*4C>A MANE Select ENSP00000445920.1:n.*4C>A
ENST00000537496.5:c.*322C>A ENSP00000444793.1:n.*322C>A
ENST00000540016.5:c.*4C>A ENSP00000474582.1:n.*4C>A
ENST00000541763.6:c.982C>A ENSP00000474981.1:n.982C>A
ENST00000544051.5:c.*638C>A ENSP00000438079.1:n.*638C>A
ENST00000545712.6:c.*4C>A ENSP00000445920.1:n.*4C>A
NM_052845.3:c.*4C>A NP_443077.1:n.*4C>A
NR_038118.1:n.917C>A
XM_011538266.1:c.*104C>A XP_011536568.1:n.*104C>A
XM_011538267.1:c.*104C>A XP_011536569.1:n.*104C>A
XM_011538268.1:c.*4C>A XP_011536570.1:n.*4C>A
XM_011538269.1:c.*4C>A XP_011536571.1:n.*4C>A
XM_011538267.3:c.*104C>A XP_011536569.1:n.*104C>A
XM_011538268.2:c.*4C>A XP_011536570.1:n.*4C>A
XM_011538269.2:c.*4C>A XP_011536571.1:n.*4C>A
NM_052845.4:c.*4C>A MANE Select NP_443077.1:n.*4C>A
NR_038118.2:n.868C>A