Canonical Allele Identifier: CA195538324
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs1056995762
gnomAD v3: 9-86078405-G-A
gnomAD v4: 9-86078405-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86078405G>A , CM000671.2:g.86078405G>A GRCh38
NC_000009.11:g.88693320G>A , CM000671.1:g.88693320G>A GRCh37
NC_000009.10:g.87883140G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000388711.7:c.129+787C>T ENSP00000373363.3:n.129+787C>T
ENST00000388712.7:c.129+787C>T MANE Select ENSP00000373364.3:n.129+787C>T
ENST00000466178.1:c.129+787C>T ENSP00000418155.1:n.129+787C>T
ENST00000470762.6:c.129+787C>T ENSP00000417504.2:n.129+787C>T
ENST00000472919.1:n.191-866C>T
ENST00000486130.5:c.129+787C>T ENSP00000419076.1:n.129+787C>T
NM_016548.3:c.129+787C>T NP_057632.2:n.129+787C>T
NM_177937.2:c.129+787C>T NP_808800.1:n.129+787C>T
NM_016548.4:c.129+787C>T MANE Select NP_057632.2:n.129+787C>T
NM_177937.3:c.129+787C>T NP_808800.1:n.129+787C>T