Canonical Allele Identifier: CA588729103
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs1272953778
gnomAD v2: 9-88700113-T-C
gnomAD v3: 9-86085198-T-C
gnomAD v4: 9-86085198-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86085198T>C , CM000671.2:g.86085198T>C GRCh38
NC_000009.11:g.88700113T>C , CM000671.1:g.88700113T>C GRCh37
NC_000009.10:g.87889933T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5857A>G ENSP00000373363.3:n.-21-5857A>G
ENST00000388712.7:c.-21-5857A>G MANE Select ENSP00000373364.3:n.-21-5857A>G
ENST00000466178.1:c.-141-159A>G ENSP00000418155.1:n.-141-159A>G
ENST00000472919.1:n.150-5857A>G
NM_016548.3:c.-21-5857A>G NP_057632.2:n.-21-5857A>G
NM_177937.2:c.-21-5857A>G NP_808800.1:n.-21-5857A>G
NM_016548.4:c.-21-5857A>G MANE Select NP_057632.2:n.-21-5857A>G
NM_177937.3:c.-21-5857A>G NP_808800.1:n.-21-5857A>G