Canonical Allele Identifier: CA2522785842
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917229-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917229G>C , CM000674.2:g.102917229G>C GRCh38
NC_000012.11:g.103311007G>C , CM000674.1:g.103311007G>C GRCh37
NC_000012.10:g.101835137G>C NCBI36
NG_008690.1:g.5374C>G
NG_008690.2:g.46182C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-99C>G MANE Select ENSP00000448059.1:n.-99C>G
ENST00000307000.7:c.-246C>G ENSP00000303500.2:n.-246C>G
ENST00000546708.5:n.493-4C>G
ENST00000546844.1:c.-95-4C>G ENSP00000446658.1:n.-95-4C>G
ENST00000547319.1:n.217-4C>G
ENST00000551337.5:c.-95-4C>G ENSP00000447620.1:n.-95-4C>G
ENST00000553106.5:c.-99C>G ENSP00000448059.1:n.-99C>G
ENST00000635500.1:n.29-4331C>G
NM_000277.1:c.-99C>G NP_000268.1:n.-99C>G
XM_011538422.1:c.-99C>G XP_011536724.1:n.-99C>G
NM_000277.2:c.-99C>G NP_000268.1:n.-99C>G
NM_001354304.1:c.-95-4C>G NP_001341233.1:n.-95-4C>G
XM_017019370.2:c.-99C>G XP_016874859.1:n.-99C>G
NM_000277.3:c.-99C>G MANE Select NP_000268.1:n.-99C>G
NM_001354304.2:c.-95-4C>G NP_001341233.1:n.-95-4C>G
Search 100 bp 5'
Search 100 bp 3'