Canonical Allele Identifier: CA588728498

Gene: GOLM1

Linked Data

• dbSNP Id: rs1476953525
• gnomAD v2: 9-88693339-G-A
• gnomAD v3: 9-86078424-G-A
• gnomAD v4: 9-86078424-G-A
• MyVariant Identifiers: chr9:g.88693339G>A (hg19) ; chr9:g.86078424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.86078424G>A , CM000671.2:g.86078424G>A	GRCh38
NC_000009.11:g.88693339G>A , CM000671.1:g.88693339G>A	GRCh37
NC_000009.10:g.87883159G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388711.7:c.129+768C>T	ENSP00000373363.3:n.129+768C>T
ENST00000388712.7:c.129+768C>T MANE Select	ENSP00000373364.3:n.129+768C>T
ENST00000466178.1:c.129+768C>T	ENSP00000418155.1:n.129+768C>T
ENST00000470762.6:c.129+768C>T	ENSP00000417504.2:n.129+768C>T
ENST00000472919.1:n.190+877C>T
ENST00000486130.5:c.129+768C>T	ENSP00000419076.1:n.129+768C>T
NM_016548.3:c.129+768C>T	NP_057632.2:n.129+768C>T
NM_177937.2:c.129+768C>T	NP_808800.1:n.129+768C>T
NM_016548.4:c.129+768C>T MANE Select	NP_057632.2:n.129+768C>T
NM_177937.3:c.129+768C>T	NP_808800.1:n.129+768C>T