Canonical Allele Identifier: CA229357
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102534
dbSNP Id: rs62642942

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843715T>C , CM000674.2:g.102843715T>C GRCh38
NC_000012.11:g.103237493T>C , CM000674.1:g.103237493T>C GRCh37
NC_000012.10:g.101761623T>C NCBI36
NG_008690.1:g.78888A>G
NG_008690.2:g.119696A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1130A>G MANE Select ENSP00000448059.1:p.Tyr377Cys
ENST00000307000.7:c.1115A>G ENSP00000303500.2:p.Tyr372Cys
ENST00000549247.6:n.889A>G
ENST00000551114.2:n.792A>G
ENST00000553106.5:c.1130A>G ENSP00000448059.1:p.Tyr377Cys
ENST00000635477.1:c.234A>G
ENST00000635528.1:n.645A>G
NM_000277.1:c.1130A>G NP_000268.1:p.Tyr377Cys
XM_011538422.1:c.1073A>G XP_011536724.1:p.Tyr358Cys
NM_000277.2:c.1130A>G NP_000268.1:p.Tyr377Cys
NM_001354304.1:c.1130A>G NP_001341233.1:p.Tyr377Cys
NM_000277.3:c.1130A>G MANE Select NP_000268.1:p.Tyr377Cys
NM_001354304.2:c.1130A>G NP_001341233.1:p.Tyr377Cys