Canonical Allele Identifier: CA195543779
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs1002600372
gnomAD v2: 9-88699884-C-T
gnomAD v3: 9-86084969-C-T
gnomAD v4: 9-86084969-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86084969C>T , CM000671.2:g.86084969C>T GRCh38
NC_000009.11:g.88699884C>T , CM000671.1:g.88699884C>T GRCh37
NC_000009.10:g.87889704C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.-21-5628G>A ENSP00000373363.3:n.-21-5628G>A
ENST00000388712.7:c.-21-5628G>A MANE Select ENSP00000373364.3:n.-21-5628G>A
ENST00000466178.1:c.-71G>A ENSP00000418155.1:n.-71G>A
ENST00000472919.1:n.150-5628G>A
NM_016548.3:c.-21-5628G>A NP_057632.2:n.-21-5628G>A
NM_177937.2:c.-21-5628G>A NP_808800.1:n.-21-5628G>A
NM_016548.4:c.-21-5628G>A MANE Select NP_057632.2:n.-21-5628G>A
NM_177937.3:c.-21-5628G>A NP_808800.1:n.-21-5628G>A