Canonical Allele Identifier: CA195538141

Gene: GOLM1

Linked Data

• dbSNP Id: rs533318838
• gnomAD v2: 9-88693031-G-A
• gnomAD v3: 9-86078116-G-A
• gnomAD v4: 9-86078116-G-A
• MyVariant Identifiers: chr9:g.88693031G>A (hg19) ; chr9:g.86078116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.86078116G>A , CM000671.2:g.86078116G>A	GRCh38
NC_000009.11:g.88693031G>A , CM000671.1:g.88693031G>A	GRCh37
NC_000009.10:g.87882851G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388711.7:c.130-525C>T	ENSP00000373363.3:n.130-525C>T
ENST00000388712.7:c.130-525C>T MANE Select	ENSP00000373364.3:n.130-525C>T
ENST00000466178.1:c.130-525C>T	ENSP00000418155.1:n.130-525C>T
ENST00000470762.6:c.130-525C>T	ENSP00000417504.2:n.130-525C>T
ENST00000472919.1:n.191-577C>T
ENST00000486130.5:c.130-525C>T	ENSP00000419076.1:n.130-525C>T
NM_016548.3:c.130-525C>T	NP_057632.2:n.130-525C>T
NM_177937.2:c.130-525C>T	NP_808800.1:n.130-525C>T
NM_016548.4:c.130-525C>T MANE Select	NP_057632.2:n.130-525C>T
NM_177937.3:c.130-525C>T	NP_808800.1:n.130-525C>T