Canonical Allele Identifier: CA195543952
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs773733989
gnomAD v2: 9-88700067-G-A
gnomAD v3: 9-86085152-G-A
gnomAD v4: 9-86085152-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86085152G>A , CM000671.2:g.86085152G>A GRCh38
NC_000009.11:g.88700067G>A , CM000671.1:g.88700067G>A GRCh37
NC_000009.10:g.87889887G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5811C>T ENSP00000373363.3:n.-21-5811C>T
ENST00000388712.7:c.-21-5811C>T MANE Select ENSP00000373364.3:n.-21-5811C>T
ENST00000466178.1:c.-141-113C>T ENSP00000418155.1:n.-141-113C>T
ENST00000472919.1:n.150-5811C>T
NM_016548.3:c.-21-5811C>T NP_057632.2:n.-21-5811C>T
NM_177937.2:c.-21-5811C>T NP_808800.1:n.-21-5811C>T
NM_016548.4:c.-21-5811C>T MANE Select NP_057632.2:n.-21-5811C>T
NM_177937.3:c.-21-5811C>T NP_808800.1:n.-21-5811C>T