Canonical Allele Identifier: CA867916273
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs745390090
gnomAD v3: 9-86078633-C-A
gnomAD v4: 9-86078633-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86078633C>A , CM000671.2:g.86078633C>A GRCh38
NC_000009.11:g.88693548C>A , CM000671.1:g.88693548C>A GRCh37
NC_000009.10:g.87883368C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000388711.7:c.129+559G>T ENSP00000373363.3:n.129+559G>T
ENST00000388712.7:c.129+559G>T MANE Select ENSP00000373364.3:n.129+559G>T
ENST00000466178.1:c.129+559G>T ENSP00000418155.1:n.129+559G>T
ENST00000470762.6:c.129+559G>T ENSP00000417504.2:n.129+559G>T
ENST00000472919.1:n.190+668G>T
ENST00000486130.5:c.129+559G>T ENSP00000419076.1:n.129+559G>T
NM_016548.3:c.129+559G>T NP_057632.2:n.129+559G>T
NM_177937.2:c.129+559G>T NP_808800.1:n.129+559G>T
NM_016548.4:c.129+559G>T MANE Select NP_057632.2:n.129+559G>T
NM_177937.3:c.129+559G>T NP_808800.1:n.129+559G>T