Canonical Allele Identifier: CA2620510111
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917148-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917148G>C , CM000674.2:g.102917148G>C GRCh38
NC_000012.11:g.103310926G>C , CM000674.1:g.103310926G>C GRCh37
NC_000012.10:g.101835056G>C NCBI36
NG_008690.1:g.5455C>G
NG_008690.2:g.46263C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.-18C>G MANE Select ENSP00000448059.1:n.-18C>G
ENST00000307000.7:c.-165C>G ENSP00000303500.2:n.-165C>G
ENST00000546844.1:c.-18C>G ENSP00000446658.1:n.-18C>G
ENST00000547319.1:n.294C>G
ENST00000549111.5:n.79C>G
ENST00000551337.5:c.-18C>G ENSP00000447620.1:n.-18C>G
ENST00000551988.5:n.72C>G
ENST00000553106.5:c.-18C>G ENSP00000448059.1:n.-18C>G
ENST00000635500.1:n.29-4250C>G
NM_000277.1:c.-18C>G NP_000268.1:n.-18C>G
XM_011538422.1:c.-18C>G XP_011536724.1:n.-18C>G
NM_000277.2:c.-18C>G NP_000268.1:n.-18C>G
NM_001354304.1:c.-18C>G NP_001341233.1:n.-18C>G
XM_017019370.2:c.-18C>G XP_016874859.1:n.-18C>G
NM_000277.3:c.-18C>G MANE Select NP_000268.1:n.-18C>G
NM_001354304.2:c.-18C>G NP_001341233.1:n.-18C>G
Search 100 bp 5'
Search 100 bp 3'