Canonical Allele Identifier: CA2690504983
Gene: GOLM1 HGNC NCBI

Linked Data

gnomAD v4: 9-86084908-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86084908G>T , CM000671.2:g.86084908G>T GRCh38
NC_000009.11:g.88699823G>T , CM000671.1:g.88699823G>T GRCh37
NC_000009.10:g.87889643G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000388711.7:c.-21-5567C>A ENSP00000373363.3:n.-21-5567C>A
ENST00000388712.7:c.-21-5567C>A MANE Select ENSP00000373364.3:n.-21-5567C>A
ENST00000466178.1:c.-22+12C>A ENSP00000418155.1:n.-22+12C>A
ENST00000472919.1:n.150-5567C>A
NM_016548.3:c.-21-5567C>A NP_057632.2:n.-21-5567C>A
NM_177937.2:c.-21-5567C>A NP_808800.1:n.-21-5567C>A
NM_016548.4:c.-21-5567C>A MANE Select NP_057632.2:n.-21-5567C>A
NM_177937.3:c.-21-5567C>A NP_808800.1:n.-21-5567C>A
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