Allele Registry

Canonical Allele Identifier: CA656127

Gene: HTR6 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM3997129 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.19666020C>T

GRCh38 chr1:g.19666020_19666021delinsTG

GRCh37 chr1:g.19992513C>T

GRCh37 chr1:g.19992513_19992514delinsTG

Linked Data - Sequence & Population

gnomAD v2:

1:19992513 C / T

gnomAD v3:

1:19666020 C / T

gnomAD v4:

chr1-19666020-C-T

Joint Max Group AF 0.25339549 (EAS)

Genomes Max Group AF 0.20749841 (EAS)

Exomes Max Group AF 0.25821773 (EAS)

Linked Data - NCBI & NCI

dbSNP:

1805054

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19666020C>T , CM000663.2:g.19666020C>T	GRCh38
NC_000001.10:g.19992513C>T , CM000663.1:g.19992513C>T	GRCh37
NC_000001.9:g.19865100C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289753.2:c.267C>T MANE Select	ENSP00000289753.1:p.Tyr89=
ENST00000289753.1:c.267C>T	ENSP00000289753.1:p.Tyr89=
NM_000871.2:c.267C>T	NP_000862.1:p.Tyr89=
NM_000871.3:c.267C>T MANE Select	NP_000862.1:p.Tyr89=

Search 100 bp 5'

Search 100 bp 3'