Canonical Allele Identifier: CA229363
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102539
dbSNP Id: rs62517194

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843686A>G , CM000674.2:g.102843686A>G GRCh38
NC_000012.11:g.103237464A>G , CM000674.1:g.103237464A>G GRCh37
NC_000012.10:g.101761594A>G NCBI36
NG_008690.1:g.78917T>C
NG_008690.2:g.119725T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1159T>C MANE Select ENSP00000448059.1:p.Tyr387His
ENST00000307000.7:c.1144T>C ENSP00000303500.2:p.Tyr382His
ENST00000549247.6:n.918T>C
ENST00000551114.2:n.821T>C
ENST00000553106.5:c.1159T>C ENSP00000448059.1:p.Tyr387His
ENST00000635477.1:c.263T>C
ENST00000635528.1:n.674T>C
NM_000277.1:c.1159T>C NP_000268.1:p.Tyr387His
XM_011538422.1:c.1102T>C XP_011536724.1:p.Tyr368His
NM_000277.2:c.1159T>C NP_000268.1:p.Tyr387His
NM_001354304.1:c.1159T>C NP_001341233.1:p.Tyr387His
NM_000277.3:c.1159T>C MANE Select NP_000268.1:p.Tyr387His
NM_001354304.2:c.1159T>C NP_001341233.1:p.Tyr387His