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: CA386296889

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2765012

ClinVar RCV Id: RCV003496597

gnomAD v4: 12-102855289-T-C

MyVariant Identifiers: chr12:g.103249067T>C (hg19) chr12:g.102855289T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855289T>C , CM000674.2:g.102855289T>C	GRCh38
NC_000012.11:g.103249067T>C , CM000674.1:g.103249067T>C	GRCh37
NC_000012.10:g.101773197T>C	NCBI36
NG_008690.1:g.67314A>G
NG_008690.2:g.108122A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.553A>G MANE Select	ENSP00000448059.1:p.Lys185Glu
ENST00000307000.7:c.538A>G	ENSP00000303500.2:p.Lys180Glu
ENST00000549111.5:n.649A>G
ENST00000551988.5:n.574A>G
ENST00000553106.5:c.553A>G	ENSP00000448059.1:p.Lys185Glu
NM_000277.1:c.553A>G	NP_000268.1:p.Lys185Glu
XM_011538422.1:c.553A>G	XP_011536724.1:p.Lys185Glu
NM_000277.2:c.553A>G	NP_000268.1:p.Lys185Glu
NM_001354304.1:c.553A>G	NP_001341233.1:p.Lys185Glu
XM_017019370.2:c.553A>G	XP_016874859.1:p.Lys185Glu
NM_000277.3:c.553A>G MANE Select	NP_000268.1:p.Lys185Glu
NM_001354304.2:c.553A>G	NP_001341233.1:p.Lys185Glu