Canonical Allele Identifier: CA935568231

Gene: TPH1

Linked Data

• dbSNP Id: rs1848014923
• gnomAD v3: 11-18033607-A-C
• gnomAD v4: 11-18033607-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18033607A>C , CM000673.2:g.18033607A>C	GRCh38
NC_000011.9:g.18055154A>C , CM000673.1:g.18055154A>C	GRCh37
NC_000011.8:g.18011730A>C	NCBI36
NG_011947.1:g.12182T>G
NG_011947.2:g.12182T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682019.1:c.302-233T>G MANE Select	ENSP00000508368.1:n.302-233T>G
ENST00000250018.6:c.302-233T>G	ENSP00000250018.2:n.302-233T>G
ENST00000417164.5:c.302-233T>G	ENSP00000403831.1:n.302-233T>G
ENST00000528338.1:c.332-233T>G	ENSP00000436081.1:n.332-233T>G
NM_004179.2:c.302-233T>G	NP_004170.1:n.302-233T>G
NM_004179.3:c.302-233T>G MANE Select	NP_004170.1:n.302-233T>G