Canonical Allele Identifier: CA195543965

Gene: GOLM1

Linked Data

• dbSNP Id: rs893037136
• gnomAD v2: 9-88700075-A-G
• gnomAD v3: 9-86085160-A-G
• gnomAD v4: 9-86085160-A-G
• MyVariant Identifiers: chr9:g.88700075A>G (hg19) ; chr9:g.86085160A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.86085160A>G , CM000671.2:g.86085160A>G	GRCh38
NC_000009.11:g.88700075A>G , CM000671.1:g.88700075A>G	GRCh37
NC_000009.10:g.87889895A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000388711.7:c.-21-5819T>C	ENSP00000373363.3:n.-21-5819T>C
ENST00000388712.7:c.-21-5819T>C MANE Select	ENSP00000373364.3:n.-21-5819T>C
ENST00000466178.1:c.-141-121T>C	ENSP00000418155.1:n.-141-121T>C
ENST00000472919.1:n.150-5819T>C
NM_016548.3:c.-21-5819T>C	NP_057632.2:n.-21-5819T>C
NM_177937.2:c.-21-5819T>C	NP_808800.1:n.-21-5819T>C
NM_016548.4:c.-21-5819T>C MANE Select	NP_057632.2:n.-21-5819T>C
NM_177937.3:c.-21-5819T>C	NP_808800.1:n.-21-5819T>C