Canonical Allele Identifier: CA2059444159
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875149166
gnomAD v4: 12-102851600-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851600G>A , CM000674.2:g.102851600G>A GRCh38
NC_000012.11:g.103245378G>A , CM000674.1:g.103245378G>A GRCh37
NC_000012.10:g.101769508G>A NCBI36
NG_008690.1:g.71003C>T
NG_008690.2:g.111811C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.912+87C>T MANE Select ENSP00000448059.1:n.912+87C>T
ENST00000307000.7:c.897+87C>T ENSP00000303500.2:n.897+87C>T
ENST00000549247.6:n.671+87C>T
ENST00000551114.2:n.574+87C>T
ENST00000553106.5:c.912+87C>T ENSP00000448059.1:n.912+87C>T
ENST00000635477.1:c.73+87C>T
NM_000277.1:c.912+87C>T NP_000268.1:n.912+87C>T
XM_011538422.1:c.912+87C>T XP_011536724.1:n.912+87C>T
NM_000277.2:c.912+87C>T NP_000268.1:n.912+87C>T
NM_001354304.1:c.912+87C>T NP_001341233.1:n.912+87C>T
NM_000277.3:c.912+87C>T MANE Select NP_000268.1:n.912+87C>T
NM_001354304.2:c.912+87C>T NP_001341233.1:n.912+87C>T
Search 100 bp 5'
Search 100 bp 3'