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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA6689955
Gene: TPH2
HGNC
NCBI
Linked Data
dbSNP Id:
rs755764502
ExAC:
12:72388302 C / A
gnomAD v2:
12-72388302-C-A
gnomAD v4:
12-71994522-C-A
MyVariant Identifiers:
chr12:g.72388302C>A (hg19)
chr12:g.71994522C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71994522C>A , CM000674.2:g.71994522C>A
GRCh38
NC_000012.11:g.72388302C>A , CM000674.1:g.72388302C>A
GRCh37
NC_000012.10:g.70674569C>A
NCBI36
NG_008279.1:g.60677C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000333850.4:c.1025C>A
MANE Select
ENSP00000329093.3:p.Ala342Glu
ENST00000333850.3:c.1025C>A
ENSP00000329093.3:p.Ala342Glu
NM_173353.3:c.1025C>A
NP_775489.2:p.Ala342Glu
XM_011537899.1:c.431C>A
XP_011536201.1:p.Ala144Glu
NM_173353.4:c.1025C>A
MANE Select
NP_775489.2:p.Ala342Glu
Search 100 bp 5'
Search 100 bp 3'