Canonical Allele Identifier: CA2620526857
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102855448-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855448A>C , CM000674.2:g.102855448A>C GRCh38
NC_000012.11:g.103249226A>C , CM000674.1:g.103249226A>C GRCh37
NC_000012.10:g.101773356A>C NCBI36
NG_008690.1:g.67155T>G
NG_008690.2:g.107963T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-116T>G MANE Select ENSP00000448059.1:n.510-116T>G
ENST00000307000.7:c.495-116T>G ENSP00000303500.2:n.495-116T>G
ENST00000549111.5:n.606-116T>G
ENST00000551988.5:n.531-116T>G
ENST00000553106.5:c.510-116T>G ENSP00000448059.1:n.510-116T>G
NM_000277.1:c.510-116T>G NP_000268.1:n.510-116T>G
XM_011538422.1:c.510-116T>G XP_011536724.1:n.510-116T>G
NM_000277.2:c.510-116T>G NP_000268.1:n.510-116T>G
NM_001354304.1:c.510-116T>G NP_001341233.1:n.510-116T>G
XM_017019370.2:c.510-116T>G XP_016874859.1:n.510-116T>G
NM_000277.3:c.510-116T>G MANE Select NP_000268.1:n.510-116T>G
NM_001354304.2:c.510-116T>G NP_001341233.1:n.510-116T>G
Search 100 bp 5'
Search 100 bp 3'