Canonical Allele Identifier: CA229327
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 595
dbSNP Id: rs62516095

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843777G>C , CM000674.2:g.102843777G>C GRCh38
NC_000012.11:g.103237555G>C , CM000674.1:g.103237555G>C GRCh37
NC_000012.10:g.101761685G>C NCBI36
NG_008690.1:g.78826C>G
NG_008690.2:g.119634C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1068C>G MANE Select ENSP00000448059.1:p.Tyr356Ter
ENST00000307000.7:c.1053C>G ENSP00000303500.2:p.Tyr351Ter
ENST00000549247.6:n.827C>G
ENST00000551114.2:n.730C>G
ENST00000553106.5:c.1068C>G ENSP00000448059.1:p.Tyr356Ter
ENST00000635477.1:c.172C>G
ENST00000635528.1:n.583C>G
NM_000277.1:c.1068C>G NP_000268.1:p.Tyr356Ter
XM_011538422.1:c.1011C>G XP_011536724.1:p.Tyr337Ter
NM_000277.2:c.1068C>G NP_000268.1:p.Tyr356Ter
NM_001354304.1:c.1068C>G NP_001341233.1:p.Tyr356Ter
NM_000277.3:c.1068C>G MANE Select NP_000268.1:p.Tyr356Ter
NM_001354304.2:c.1068C>G NP_001341233.1:p.Tyr356Ter