Canonical Allele Identifier: CA867920572
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs912678541
gnomAD v3: 9-86085066-C-G
gnomAD v4: 9-86085066-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86085066C>G , CM000671.2:g.86085066C>G GRCh38
NC_000009.11:g.88699981C>G , CM000671.1:g.88699981C>G GRCh37
NC_000009.10:g.87889801C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5725G>C ENSP00000373363.3:n.-21-5725G>C
ENST00000388712.7:c.-21-5725G>C MANE Select ENSP00000373364.3:n.-21-5725G>C
ENST00000466178.1:c.-141-27G>C ENSP00000418155.1:n.-141-27G>C
ENST00000472919.1:n.150-5725G>C
NM_016548.3:c.-21-5725G>C NP_057632.2:n.-21-5725G>C
NM_177937.2:c.-21-5725G>C NP_808800.1:n.-21-5725G>C
NM_016548.4:c.-21-5725G>C MANE Select NP_057632.2:n.-21-5725G>C
NM_177937.3:c.-21-5725G>C NP_808800.1:n.-21-5725G>C