Canonical Allele Identifier: CA2690505038
Gene: GOLM1 HGNC NCBI

Linked Data

gnomAD v4: 9-86084968-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86084968C>A , CM000671.2:g.86084968C>A GRCh38
NC_000009.11:g.88699883C>A , CM000671.1:g.88699883C>A GRCh37
NC_000009.10:g.87889703C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5627G>T ENSP00000373363.3:n.-21-5627G>T
ENST00000388712.7:c.-21-5627G>T MANE Select ENSP00000373364.3:n.-21-5627G>T
ENST00000466178.1:c.-70G>T ENSP00000418155.1:n.-70G>T
ENST00000472919.1:n.150-5627G>T
NM_016548.3:c.-21-5627G>T NP_057632.2:n.-21-5627G>T
NM_177937.2:c.-21-5627G>T NP_808800.1:n.-21-5627G>T
NM_016548.4:c.-21-5627G>T MANE Select NP_057632.2:n.-21-5627G>T
NM_177937.3:c.-21-5627G>T NP_808800.1:n.-21-5627G>T
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