Canonical Allele Identifier: CA6778818
Community Standard Title: NM_052845.4(MMAB):c.584+15G>A
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109561025C>T , CM000674.2:g.109561025C>T GRCh38
NC_000012.11:g.109998830C>T , CM000674.1:g.109998830C>T GRCh37
NC_000012.10:g.108483213C>T NCBI36
NG_007096.1:g.17473G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052845.4:c.584+15G>A MANE Select NP_443077.1:n.584+15G>A
ENST00000545712.7:c.584+15G>A MANE Select ENSP00000445920.1:n.584+15G>A
NM_052845.3:c.584+15G>A NP_443077.1:n.584+15G>A
NR_038118.1:n.744+15G>A
NR_038118.2:n.695+15G>A
ENST00000537496.5:c.*149+15G>A ENSP00000444793.1:n.*149+15G>A
ENST00000540016.5:c.428+15G>A ENSP00000474582.1:n.428+15G>A
ENST00000541763.6:c.809+15G>A ENSP00000474981.1:n.809+15G>A
ENST00000544051.5:c.*465+15G>A ENSP00000438079.1:n.*465+15G>A
ENST00000545712.6:c.584+15G>A ENSP00000445920.1:n.584+15G>A
XM_011538266.1:c.429+15G>A XP_011536568.1:n.429+15G>A
XM_011538267.1:c.429+15G>A XP_011536569.1:n.429+15G>A
XM_011538267.3:c.429+15G>A XP_011536569.1:n.429+15G>A
XM_011538268.1:c.311+15G>A XP_011536570.1:n.311+15G>A
XM_011538268.2:c.311+15G>A XP_011536570.1:n.311+15G>A
XM_011538269.1:c.308+15G>A XP_011536571.1:n.308+15G>A
XM_011538269.2:c.308+15G>A XP_011536571.1:n.308+15G>A
XM_024448961.1:c.584+15G>A XP_024304729.1:n.584+15G>A