Canonical Allele Identifier: CA312718
Gene: MMAB HGNC NCBI

Linked Data

ClinVar Variation Id: 203820
dbSNP Id: rs369296618

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557081G>A , CM000674.2:g.109557081G>A GRCh38
NC_000012.11:g.109994886G>A , CM000674.1:g.109994886G>A GRCh37
NC_000012.10:g.108479269G>A NCBI36
NG_007096.1:g.21417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.700C>T MANE Select ENSP00000445920.1:p.Gln234Ter
ENST00000537496.5:c.*265C>T ENSP00000444793.1:n.*265C>T
ENST00000540016.5:c.544C>T ENSP00000474582.1:p.Gln182Ter
ENST00000541763.6:c.925C>T ENSP00000474981.1:n.925C>T
ENST00000544051.5:c.*581C>T ENSP00000438079.1:n.*581C>T
ENST00000545712.6:c.700C>T ENSP00000445920.1:p.Gln234Ter
NM_052845.3:c.700C>T NP_443077.1:p.Gln234Ter
NR_038118.1:n.860C>T
XM_011538266.1:c.*47C>T XP_011536568.1:n.*47C>T
XM_011538267.1:c.*47C>T XP_011536569.1:n.*47C>T
XM_011538268.1:c.427C>T XP_011536570.1:p.Gln143Ter
XM_011538269.1:c.424C>T XP_011536571.1:p.Gln142Ter
XM_011538267.3:c.*47C>T XP_011536569.1:n.*47C>T
XM_011538268.2:c.427C>T XP_011536570.1:p.Gln143Ter
XM_011538269.2:c.424C>T XP_011536571.1:p.Gln142Ter
NM_052845.4:c.700C>T MANE Select NP_443077.1:p.Gln234Ter
NR_038118.2:n.811C>T