Allele Registry

Canonical Allele Identifier: CA3688008

Gene: OR5V1 HGNC NCBI
OR12D3 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.29374998G>A

GRCh37 chr6:g.29342775G>A

Revel Score:

ENST00000377143 0.052

ENST00000396806 (MANE Select) 0.052

Linked Data - Sequence & Population

gnomAD v2:

6:29342775 G / A

gnomAD v3:

6:29374998 G / A

gnomAD v4:

chr6-29374998-G-A

Joint Max Group AF 0.1116103 (NFE)

Genomes Max Group AF 0.0925517 (NFE)

Exomes Max Group AF 0.11267111 (NFE)

Linked Data - NCBI & NCI

dbSNP:

3749971

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29374998G>A , CM000668.2:g.29374998G>A	GRCh38
NC_000006.11:g.29342775G>A , CM000668.1:g.29342775G>A	GRCh37
NC_000006.10:g.29450754G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377154.1:c.-82-18721C>T (OR5V1)	ENSP00000366359.1:n.-82-18721C>T
ENST00000396806.3:c.290C>T (OR12D3) MANE Select	ENSP00000380023.3:p.Thr97Ile
NM_030959.2:c.290C>T (OR12D3)	NP_112221.1:p.Thr97Ile
XM_011514929.1:c.-82-18721C>T (OR5V1)	XP_011513231.1:n.-82-18721C>T
XM_011514930.1:c.-82-18721C>T (OR5V1)	XP_011513232.1:n.-82-18721C>T
XM_011514931.1:c.-82-18721C>T (OR5V1)	XP_011513233.1:n.-82-18721C>T
XM_011514932.1:c.-82-18721C>T (OR5V1)	XP_011513234.1:n.-82-18721C>T
XM_011514930.2:c.-82-18721C>T (OR5V1)	XP_011513232.1:n.-82-18721C>T
XM_024446562.1:c.-82-18721C>T (OR5V1)	XP_024302330.1:n.-82-18721C>T
NM_030959.3:c.290C>T (OR12D3) MANE Select	NP_112221.1:p.Thr97Ile

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