Canonical Allele Identifier: CA588728491

Gene: GOLM1

Linked Data

• dbSNP Id: rs1464293343
• gnomAD v2: 9-88693173-A-G
• MyVariant Identifiers: chr9:g.88693173A>G (hg19) ; chr9:g.86078258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.86078258A>G , CM000671.2:g.86078258A>G	GRCh38
NC_000009.11:g.88693173A>G , CM000671.1:g.88693173A>G	GRCh37
NC_000009.10:g.87882993A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388711.7:c.130-667T>C	ENSP00000373363.3:n.130-667T>C
ENST00000388712.7:c.130-667T>C MANE Select	ENSP00000373364.3:n.130-667T>C
ENST00000466178.1:c.130-667T>C	ENSP00000418155.1:n.130-667T>C
ENST00000470762.6:c.130-667T>C	ENSP00000417504.2:n.130-667T>C
ENST00000472919.1:n.191-719T>C
ENST00000486130.5:c.130-667T>C	ENSP00000419076.1:n.130-667T>C
NM_016548.3:c.130-667T>C	NP_057632.2:n.130-667T>C
NM_177937.2:c.130-667T>C	NP_808800.1:n.130-667T>C
NM_016548.4:c.130-667T>C MANE Select	NP_057632.2:n.130-667T>C
NM_177937.3:c.130-667T>C	NP_808800.1:n.130-667T>C