Canonical Allele Identifier: CA674256474
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1186620893
gnomAD v3: 11-18033636-C-T
gnomAD v4: 11-18033636-C-T
MyVariant Identifiers: chr11:g.18055183C>T (hg19) chr11:g.18033636C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18033636C>T , CM000673.2:g.18033636C>T GRCh38
NC_000011.9:g.18055183C>T , CM000673.1:g.18055183C>T GRCh37
NC_000011.8:g.18011759C>T NCBI36
NG_011947.1:g.12153G>A
NG_011947.2:g.12153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.302-262G>A MANE Select ENSP00000508368.1:n.302-262G>A
ENST00000250018.6:c.302-262G>A ENSP00000250018.2:n.302-262G>A
ENST00000417164.5:c.302-262G>A ENSP00000403831.1:n.302-262G>A
ENST00000528338.1:c.332-262G>A ENSP00000436081.1:n.332-262G>A
NM_004179.2:c.302-262G>A NP_004170.1:n.302-262G>A
NM_004179.3:c.302-262G>A MANE Select NP_004170.1:n.302-262G>A
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