Canonical Allele Identifier: CA229454
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102606
dbSNP Id: rs62507288

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912786C>G , CM000674.2:g.102912786C>G GRCh38
NC_000012.11:g.103306564C>G , CM000674.1:g.103306564C>G GRCh37
NC_000012.10:g.101830694C>G NCBI36
NG_008690.1:g.9817G>C
NG_008690.2:g.50625G>C

Transcript Alleles

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