Canonical Allele Identifier: CA2690509876
Gene: GOLM1 HGNC NCBI

Linked Data

gnomAD v4: 9-86078038-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86078038A>G , CM000671.2:g.86078038A>G GRCh38
NC_000009.11:g.88692953A>G , CM000671.1:g.88692953A>G GRCh37
NC_000009.10:g.87882773A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000388711.7:c.130-447T>C ENSP00000373363.3:n.130-447T>C
ENST00000388712.7:c.130-447T>C MANE Select ENSP00000373364.3:n.130-447T>C
ENST00000466178.1:c.130-447T>C ENSP00000418155.1:n.130-447T>C
ENST00000470762.6:c.130-447T>C ENSP00000417504.2:n.130-447T>C
ENST00000472919.1:n.191-499T>C
ENST00000486130.5:c.130-447T>C ENSP00000419076.1:n.130-447T>C
NM_016548.3:c.130-447T>C NP_057632.2:n.130-447T>C
NM_177937.2:c.130-447T>C NP_808800.1:n.130-447T>C
NM_016548.4:c.130-447T>C MANE Select NP_057632.2:n.130-447T>C
NM_177937.3:c.130-447T>C NP_808800.1:n.130-447T>C
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