Canonical Allele Identifier: CA5166144

Gene: OR13C5

Linked Data

• ClinVar Variation Id: 403269
• ClinVar RCV Id: RCV000455986 ; RCV000947193
• dbSNP Id: rs80227456
• ExAC: 9:107361451 G / A
• gnomAD v2: 9-107361451-G-A
• gnomAD v3: 9-104599170-G-A
• gnomAD v4: 9-104599170-G-A
• COSMIC: COSM4007007
• MyVariant Identifiers: chr9:g.107361451G>A (hg19) ; chr9:g.107361451_107361452delinsAC (hg19) ; chr9:g.104599170G>A (hg38) ; chr9:g.104599170_104599171delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104599170G>A , CM000671.2:g.104599170G>A	GRCh38
NC_000009.11:g.107361451G>A , CM000671.1:g.107361451G>A	GRCh37
NC_000009.10:g.106401272G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374779.3:c.244C>T MANE Select	ENSP00000363911.2:p.Leu82=
NM_001004482.1:c.244C>T MANE Select	NP_001004482.1:p.Leu82=