Canonical Allele Identifier: CA935563075
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1854329343
gnomAD v3: 11-18019090-G-A
gnomAD v4: 11-18019090-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18019090G>A , CM000673.2:g.18019090G>A GRCh38
NC_000011.9:g.18040637G>A , CM000673.1:g.18040637G>A GRCh37
NC_000011.8:g.17997213G>A NCBI36
NG_011947.1:g.26699C>T
NG_011947.2:g.26699C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.*1901C>T MANE Select ENSP00000508368.1:n.*1901C>T
ENST00000250018.6:c.*1901C>T ENSP00000250018.2:n.*1901C>T
NM_004179.3:c.*1901C>T MANE Select NP_004170.1:n.*1901C>T
Search 100 bp 5'
Search 100 bp 3'