Canonical Allele Identifier: CA2690505050
Gene: GOLM1 HGNC NCBI

Linked Data

gnomAD v4: 9-86084977-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86084977A>G , CM000671.2:g.86084977A>G GRCh38
NC_000009.11:g.88699892A>G , CM000671.1:g.88699892A>G GRCh37
NC_000009.10:g.87889712A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5636T>C ENSP00000373363.3:n.-21-5636T>C
ENST00000388712.7:c.-21-5636T>C MANE Select ENSP00000373364.3:n.-21-5636T>C
ENST00000466178.1:c.-79T>C ENSP00000418155.1:n.-79T>C
ENST00000472919.1:n.150-5636T>C
NM_016548.3:c.-21-5636T>C NP_057632.2:n.-21-5636T>C
NM_177937.2:c.-21-5636T>C NP_808800.1:n.-21-5636T>C
NM_016548.4:c.-21-5636T>C MANE Select NP_057632.2:n.-21-5636T>C
NM_177937.3:c.-21-5636T>C NP_808800.1:n.-21-5636T>C