Canonical Allele Identifier: CA229456
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102608
dbSNP Id: rs62516144

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912785A>C , CM000674.2:g.102912785A>C GRCh38
NC_000012.11:g.103306563A>C , CM000674.1:g.103306563A>C GRCh37
NC_000012.10:g.101830693A>C NCBI36
NG_008690.1:g.9818T>G
NG_008690.2:g.50626T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.168+6T>G MANE Select ENSP00000448059.1:n.168+6T>G
ENST00000307000.7:c.153+6T>G ENSP00000303500.2:n.153+6T>G
ENST00000546844.1:c.168+6T>G ENSP00000446658.1:n.168+6T>G
ENST00000548677.2:n.255+6T>G
ENST00000548928.1:n.90+6T>G
ENST00000549111.5:n.264+6T>G
ENST00000550978.6:c.152+6T>G
ENST00000551337.5:c.168+6T>G ENSP00000447620.1:n.168+6T>G
ENST00000551988.5:n.257+6T>G
ENST00000553106.5:c.168+6T>G ENSP00000448059.1:n.168+6T>G
ENST00000635500.1:n.136+6T>G
NM_000277.1:c.168+6T>G NP_000268.1:n.168+6T>G
XM_011538422.1:c.168+6T>G XP_011536724.1:n.168+6T>G
NM_000277.2:c.168+6T>G NP_000268.1:n.168+6T>G
NM_001354304.1:c.168+6T>G NP_001341233.1:n.168+6T>G
XM_017019370.2:c.168+6T>G XP_016874859.1:n.168+6T>G
NM_000277.3:c.168+6T>G MANE Select NP_000268.1:n.168+6T>G
NM_001354304.2:c.168+6T>G NP_001341233.1:n.168+6T>G