Canonical Allele Identifier: CA195538353
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs985316357
gnomAD v2: 9-88693329-C-T
gnomAD v3: 9-86078414-C-T
gnomAD v4: 9-86078414-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86078414C>T , CM000671.2:g.86078414C>T GRCh38
NC_000009.11:g.88693329C>T , CM000671.1:g.88693329C>T GRCh37
NC_000009.10:g.87883149C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388711.7:c.129+778G>A ENSP00000373363.3:n.129+778G>A
ENST00000388712.7:c.129+778G>A MANE Select ENSP00000373364.3:n.129+778G>A
ENST00000466178.1:c.129+778G>A ENSP00000418155.1:n.129+778G>A
ENST00000470762.6:c.129+778G>A ENSP00000417504.2:n.129+778G>A
ENST00000472919.1:n.191-875G>A
ENST00000486130.5:c.129+778G>A ENSP00000419076.1:n.129+778G>A
NM_016548.3:c.129+778G>A NP_057632.2:n.129+778G>A
NM_177937.2:c.129+778G>A NP_808800.1:n.129+778G>A
NM_016548.4:c.129+778G>A MANE Select NP_057632.2:n.129+778G>A
NM_177937.3:c.129+778G>A NP_808800.1:n.129+778G>A