Canonical Allele Identifier: CA386635572
Gene: MMAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557084T>A , CM000674.2:g.109557084T>A GRCh38
NC_000012.11:g.109994889T>A , CM000674.1:g.109994889T>A GRCh37
NC_000012.10:g.108479272T>A NCBI36
NG_007096.1:g.21414A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.697A>T MANE Select ENSP00000445920.1:p.Asn233Tyr
ENST00000537496.5:c.*262A>T ENSP00000444793.1:n.*262A>T
ENST00000540016.5:c.541A>T ENSP00000474582.1:p.Asn181Tyr
ENST00000541763.6:c.922A>T ENSP00000474981.1:n.922A>T
ENST00000544051.5:c.*578A>T ENSP00000438079.1:n.*578A>T
ENST00000545712.6:c.697A>T ENSP00000445920.1:p.Asn233Tyr
NM_052845.3:c.697A>T NP_443077.1:p.Asn233Tyr
NR_038118.1:n.857A>T
XM_011538266.1:c.*44A>T XP_011536568.1:n.*44A>T
XM_011538267.1:c.*44A>T XP_011536569.1:n.*44A>T
XM_011538268.1:c.424A>T XP_011536570.1:p.Asn142Tyr
XM_011538269.1:c.421A>T XP_011536571.1:p.Asn141Tyr
XM_011538267.3:c.*44A>T XP_011536569.1:n.*44A>T
XM_011538268.2:c.424A>T XP_011536570.1:p.Asn142Tyr
XM_011538269.2:c.421A>T XP_011536571.1:p.Asn141Tyr
NM_052845.4:c.697A>T MANE Select NP_443077.1:p.Asn233Tyr
NR_038118.2:n.808A>T