Canonical Allele Identifier: CA385782075
Gene: TPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994518C>A , CM000674.2:g.71994518C>A GRCh38
NC_000012.11:g.72388298C>A , CM000674.1:g.72388298C>A GRCh37
NC_000012.10:g.70674565C>A NCBI36
NG_008279.1:g.60673C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.1021C>A MANE Select ENSP00000329093.3:p.Leu341Met
ENST00000333850.3:c.1021C>A ENSP00000329093.3:p.Leu341Met
NM_173353.3:c.1021C>A NP_775489.2:p.Leu341Met
XM_011537899.1:c.427C>A XP_011536201.1:p.Leu143Met
NM_173353.4:c.1021C>A MANE Select NP_775489.2:p.Leu341Met