Canonical Allele Identifier: CA174132

Gene: OLA1

Linked Data

• ClinVar Variation Id: 161492
• ClinVar RCV Id: RCV000149026
• dbSNP Id: rs193920787
• ExAC: 2:174946734 A / C
• gnomAD v2: 2-174946734-A-C
• gnomAD v4: 2-174082006-A-C
• COSMIC: COSM1179197
• MyVariant Identifiers: chr2:g.174946734A>C (hg19) ; chr2:g.174082006A>C (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174082006A>C , CM000664.2:g.174082006A>C	GRCh38
NC_000002.11:g.174946734A>C , CM000664.1:g.174946734A>C	GRCh37
NC_000002.10:g.174654980A>C	NCBI36
NG_051001.1:g.171665T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284719.8:c.787T>G MANE Select	ENSP00000284719.3:p.Phe263Val
ENST00000284719.7:c.787T>G	ENSP00000284719.3:p.Phe263Val
ENST00000344357.9:c.313T>G	ENSP00000340167.5:p.Phe105Val
ENST00000392560.6:n.290T>G
ENST00000409546.5:c.847T>G	ENSP00000386350.1:p.Phe283Val
ENST00000428402.6:c.729-6479T>G	ENSP00000410385.2:n.729-6479T>G
ENST00000462000.1:n.233T>G
NM_001011708.1:c.313T>G	NP_001011708.1:p.Phe105Val
NM_013341.3:c.787T>G	NP_037473.3:p.Phe263Val
NM_001011708.2:c.313T>G	NP_001011708.1:p.Phe105Val
NM_001328688.1:c.729-5T>G	NP_001315617.1:n.729-5T>G
NM_013341.4:c.787T>G	NP_037473.3:p.Phe263Val
NM_013341.5:c.787T>G MANE Select	NP_037473.3:p.Phe263Val
NM_001011708.3:c.313T>G	NP_001011708.1:p.Phe105Val
NM_001328688.2:c.729-5T>G	NP_001315617.1:n.729-5T>G