Canonical Allele Identifier: CA2059451134
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874863977
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846815G>A , CM000674.2:g.102846815G>A GRCh38
NC_000012.11:g.103240593G>A , CM000674.1:g.103240593G>A GRCh37
NC_000012.10:g.101764723G>A NCBI36
NG_008690.1:g.75788C>T
NG_008690.2:g.116596C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+80C>T MANE Select ENSP00000448059.1:n.969+80C>T
ENST00000307000.7:c.954+80C>T ENSP00000303500.2:n.954+80C>T
ENST00000549247.6:n.728+80C>T
ENST00000551114.2:n.631+80C>T
ENST00000553106.5:c.969+80C>T ENSP00000448059.1:n.969+80C>T
ENST00000635477.1:c.74-2384C>T
ENST00000635528.1:n.484+80C>T
NM_000277.1:c.969+80C>T NP_000268.1:n.969+80C>T
XM_011538422.1:c.913-2384C>T XP_011536724.1:n.913-2384C>T
NM_000277.2:c.969+80C>T NP_000268.1:n.969+80C>T
NM_001354304.1:c.969+80C>T NP_001341233.1:n.969+80C>T
NM_000277.3:c.969+80C>T MANE Select NP_000268.1:n.969+80C>T
NM_001354304.2:c.969+80C>T NP_001341233.1:n.969+80C>T
Search 100 bp 5'
Search 100 bp 3'