Canonical Allele Identifier: CA588729104
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs1276570898
gnomAD v2: 9-88700140-G-T
gnomAD v3: 9-86085225-G-T
gnomAD v4: 9-86085225-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86085225G>T , CM000671.2:g.86085225G>T GRCh38
NC_000009.11:g.88700140G>T , CM000671.1:g.88700140G>T GRCh37
NC_000009.10:g.87889960G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000388711.7:c.-21-5884C>A ENSP00000373363.3:n.-21-5884C>A
ENST00000388712.7:c.-21-5884C>A MANE Select ENSP00000373364.3:n.-21-5884C>A
ENST00000466178.1:c.-141-186C>A ENSP00000418155.1:n.-141-186C>A
ENST00000472919.1:n.150-5884C>A
NM_016548.3:c.-21-5884C>A NP_057632.2:n.-21-5884C>A
NM_177937.2:c.-21-5884C>A NP_808800.1:n.-21-5884C>A
NM_016548.4:c.-21-5884C>A MANE Select NP_057632.2:n.-21-5884C>A
NM_177937.3:c.-21-5884C>A NP_808800.1:n.-21-5884C>A