Canonical Allele Identifier: CA2573053588
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1311491
ClinVar RCV Id: RCV001752474
dbSNP Id: rs1877439666
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894921A>C , CM000674.2:g.102894921A>C GRCh38
NC_000012.11:g.103288699A>C , CM000674.1:g.103288699A>C GRCh37
NC_000012.10:g.101812829A>C NCBI36
NG_008690.1:g.27682T>G
NG_008690.2:g.68490T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.169-3T>G MANE Select ENSP00000448059.1:n.169-3T>G
ENST00000307000.7:c.154-3T>G ENSP00000303500.2:n.154-3T>G
ENST00000546844.1:c.169-3T>G ENSP00000446658.1:n.169-3T>G
ENST00000548677.2:n.256-3T>G
ENST00000548928.1:n.91-3T>G
ENST00000549111.5:n.265-3T>G
ENST00000550978.6:c.153-3T>G
ENST00000551337.5:c.169-3T>G ENSP00000447620.1:n.169-3T>G
ENST00000551988.5:n.258-3T>G
ENST00000553106.5:c.169-3T>G ENSP00000448059.1:n.169-3T>G
ENST00000635500.1:n.137-3T>G
NM_000277.1:c.169-3T>G NP_000268.1:n.169-3T>G
XM_011538422.1:c.169-3T>G XP_011536724.1:n.169-3T>G
NM_000277.2:c.169-3T>G NP_000268.1:n.169-3T>G
NM_001354304.1:c.169-3T>G NP_001341233.1:n.169-3T>G
XM_017019370.2:c.169-3T>G XP_016874859.1:n.169-3T>G
NM_000277.3:c.169-3T>G MANE Select NP_000268.1:n.169-3T>G
NM_001354304.2:c.169-3T>G NP_001341233.1:n.169-3T>G
Search 100 bp 5'
Search 100 bp 3'