Canonical Allele Identifier: CA1861294487
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs1587738076
gnomAD v4: 9-86084955-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86084955G>A , CM000671.2:g.86084955G>A GRCh38
NC_000009.11:g.88699870G>A , CM000671.1:g.88699870G>A GRCh37
NC_000009.10:g.87889690G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5614C>T ENSP00000373363.3:n.-21-5614C>T
ENST00000388712.7:c.-21-5614C>T MANE Select ENSP00000373364.3:n.-21-5614C>T
ENST00000466178.1:c.-57C>T ENSP00000418155.1:n.-57C>T
ENST00000472919.1:n.150-5614C>T
NM_016548.3:c.-21-5614C>T NP_057632.2:n.-21-5614C>T
NM_177937.2:c.-21-5614C>T NP_808800.1:n.-21-5614C>T
NM_016548.4:c.-21-5614C>T MANE Select NP_057632.2:n.-21-5614C>T
NM_177937.3:c.-21-5614C>T NP_808800.1:n.-21-5614C>T
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