Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA386296593

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2153853

ClinVar RCV Id: RCV003077826

gnomAD v4: 12-102855172-T-C

MyVariant Identifiers: chr12:g.103248950T>C (hg19) chr12:g.102855172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855172T>C , CM000674.2:g.102855172T>C	GRCh38
NC_000012.11:g.103248950T>C , CM000674.1:g.103248950T>C	GRCh37
NC_000012.10:g.101773080T>C	NCBI36
NG_008690.1:g.67431A>G
NG_008690.2:g.108239A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.670A>G MANE Select	ENSP00000448059.1:p.Ile224Val
ENST00000307000.7:c.655A>G	ENSP00000303500.2:p.Ile219Val
ENST00000549111.5:n.766A>G
ENST00000553106.5:c.670A>G	ENSP00000448059.1:p.Ile224Val
NM_000277.1:c.670A>G	NP_000268.1:p.Ile224Val
XM_011538422.1:c.670A>G	XP_011536724.1:p.Ile224Val
NM_000277.2:c.670A>G	NP_000268.1:p.Ile224Val
NM_001354304.1:c.670A>G	NP_001341233.1:p.Ile224Val
XM_017019370.2:c.670A>G	XP_016874859.1:p.Ile224Val
NM_000277.3:c.670A>G MANE Select	NP_000268.1:p.Ile224Val
NM_001354304.2:c.670A>G	NP_001341233.1:p.Ile224Val