Canonical Allele Identifier: CA218516583
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1042678109
gnomAD v3: 11-18033749-T-C
gnomAD v4: 11-18033749-T-C
MyVariant Identifiers: chr11:g.18055296T>C (hg19) chr11:g.18033749T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18033749T>C , CM000673.2:g.18033749T>C GRCh38
NC_000011.9:g.18055296T>C , CM000673.1:g.18055296T>C GRCh37
NC_000011.8:g.18011872T>C NCBI36
NG_011947.1:g.12040A>G
NG_011947.2:g.12040A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682019.1:c.302-375A>G MANE Select ENSP00000508368.1:n.302-375A>G
ENST00000250018.6:c.302-375A>G ENSP00000250018.2:n.302-375A>G
ENST00000417164.5:c.302-375A>G ENSP00000403831.1:n.302-375A>G
ENST00000528338.1:c.332-375A>G ENSP00000436081.1:n.332-375A>G
NM_004179.2:c.302-375A>G NP_004170.1:n.302-375A>G
NM_004179.3:c.302-375A>G MANE Select NP_004170.1:n.302-375A>G
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