Canonical Allele Identifier: CA195543787
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs958601572
gnomAD v2: 9-88699909-G-A
gnomAD v3: 9-86084994-G-A
gnomAD v4: 9-86084994-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86084994G>A , CM000671.2:g.86084994G>A GRCh38
NC_000009.11:g.88699909G>A , CM000671.1:g.88699909G>A GRCh37
NC_000009.10:g.87889729G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5653C>T ENSP00000373363.3:n.-21-5653C>T
ENST00000388712.7:c.-21-5653C>T MANE Select ENSP00000373364.3:n.-21-5653C>T
ENST00000466178.1:c.-96C>T ENSP00000418155.1:n.-96C>T
ENST00000472919.1:n.150-5653C>T
NM_016548.3:c.-21-5653C>T NP_057632.2:n.-21-5653C>T
NM_177937.2:c.-21-5653C>T NP_808800.1:n.-21-5653C>T
NM_016548.4:c.-21-5653C>T MANE Select NP_057632.2:n.-21-5653C>T
NM_177937.3:c.-21-5653C>T NP_808800.1:n.-21-5653C>T