Canonical Allele Identifier: CA195543970

Gene: GOLM1

Linked Data

• dbSNP Id: rs1002734789
• gnomAD v2: 9-88700079-T-C
• gnomAD v3: 9-86085164-T-C
• gnomAD v4: 9-86085164-T-C
• MyVariant Identifiers: chr9:g.88700079T>C (hg19) ; chr9:g.86085164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.86085164T>C , CM000671.2:g.86085164T>C	GRCh38
NC_000009.11:g.88700079T>C , CM000671.1:g.88700079T>C	GRCh37
NC_000009.10:g.87889899T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000388711.7:c.-21-5823A>G	ENSP00000373363.3:n.-21-5823A>G
ENST00000388712.7:c.-21-5823A>G MANE Select	ENSP00000373364.3:n.-21-5823A>G
ENST00000466178.1:c.-141-125A>G	ENSP00000418155.1:n.-141-125A>G
ENST00000472919.1:n.150-5823A>G
NM_016548.3:c.-21-5823A>G	NP_057632.2:n.-21-5823A>G
NM_177937.2:c.-21-5823A>G	NP_808800.1:n.-21-5823A>G
NM_016548.4:c.-21-5823A>G MANE Select	NP_057632.2:n.-21-5823A>G
NM_177937.3:c.-21-5823A>G	NP_808800.1:n.-21-5823A>G