Canonical Allele Identifier: CA1126304268

Gene: GOLM1

Linked Data

• dbSNP Id: rs1834685135
• gnomAD v3: 9-86078440-T-G
• gnomAD v4: 9-86078440-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.86078440T>G , CM000671.2:g.86078440T>G	GRCh38
NC_000009.11:g.88693355T>G , CM000671.1:g.88693355T>G	GRCh37
NC_000009.10:g.87883175T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388711.7:c.129+752A>C	ENSP00000373363.3:n.129+752A>C
ENST00000388712.7:c.129+752A>C MANE Select	ENSP00000373364.3:n.129+752A>C
ENST00000466178.1:c.129+752A>C	ENSP00000418155.1:n.129+752A>C
ENST00000470762.6:c.129+752A>C	ENSP00000417504.2:n.129+752A>C
ENST00000472919.1:n.190+861A>C
ENST00000486130.5:c.129+752A>C	ENSP00000419076.1:n.129+752A>C
NM_016548.3:c.129+752A>C	NP_057632.2:n.129+752A>C
NM_177937.2:c.129+752A>C	NP_808800.1:n.129+752A>C
NM_016548.4:c.129+752A>C MANE Select	NP_057632.2:n.129+752A>C
NM_177937.3:c.129+752A>C	NP_808800.1:n.129+752A>C