Canonical Allele Identifier: CA16411119
Gene: TPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18038806C>T , CM000673.2:g.18038806C>T GRCh38
NC_000011.9:g.18060353C>T , CM000673.1:g.18060353C>T GRCh37
NC_000011.8:g.18016929C>T NCBI36
NG_011947.1:g.6983G>A
NG_011947.2:g.6983G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.117+1840G>A MANE Select ENSP00000508368.1:n.117+1840G>A
ENST00000250018.6:c.117+1840G>A ENSP00000250018.2:n.117+1840G>A
ENST00000417164.5:c.117+1840G>A ENSP00000403831.1:n.117+1840G>A
ENST00000528338.1:c.147+1840G>A ENSP00000436081.1:n.147+1840G>A
NM_004179.2:c.117+1840G>A NP_004170.1:n.117+1840G>A
NM_004179.3:c.117+1840G>A MANE Select NP_004170.1:n.117+1840G>A