Canonical Allele Identifier: CA195538408
Gene: GOLM1 HGNC NCBI

Linked Data

dbSNP Id: rs953541160
gnomAD v3: 9-86078474-G-C
gnomAD v4: 9-86078474-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.86078474G>C , CM000671.2:g.86078474G>C GRCh38
NC_000009.11:g.88693389G>C , CM000671.1:g.88693389G>C GRCh37
NC_000009.10:g.87883209G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000388711.7:c.129+718C>G ENSP00000373363.3:n.129+718C>G
ENST00000388712.7:c.129+718C>G MANE Select ENSP00000373364.3:n.129+718C>G
ENST00000466178.1:c.129+718C>G ENSP00000418155.1:n.129+718C>G
ENST00000470762.6:c.129+718C>G ENSP00000417504.2:n.129+718C>G
ENST00000472919.1:n.190+827C>G
ENST00000486130.5:c.129+718C>G ENSP00000419076.1:n.129+718C>G
NM_016548.3:c.129+718C>G NP_057632.2:n.129+718C>G
NM_177937.2:c.129+718C>G NP_808800.1:n.129+718C>G
NM_016548.4:c.129+718C>G MANE Select NP_057632.2:n.129+718C>G
NM_177937.3:c.129+718C>G NP_808800.1:n.129+718C>G