Canonical Allele Identifier: CA16020866
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 619148
ClinVar RCV Id: RCV000758093

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852840A>G , CM000674.2:g.102852840A>G GRCh38
NC_000012.11:g.103246618A>G , CM000674.1:g.103246618A>G GRCh37
NC_000012.10:g.101770748A>G NCBI36
NG_008690.1:g.69763T>C
NG_008690.2:g.110571T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.817T>C MANE Select ENSP00000448059.1:p.Ser273Pro
ENST00000307000.7:c.802T>C ENSP00000303500.2:p.Ser268Pro
ENST00000549247.6:n.576T>C
ENST00000553106.5:c.817T>C ENSP00000448059.1:p.Ser273Pro
NM_000277.1:c.817T>C NP_000268.1:p.Ser273Pro
XM_011538422.1:c.817T>C XP_011536724.1:p.Ser273Pro
NM_000277.2:c.817T>C NP_000268.1:p.Ser273Pro
NM_001354304.1:c.817T>C NP_001341233.1:p.Ser273Pro
NM_000277.3:c.817T>C MANE Select NP_000268.1:p.Ser273Pro
NM_001354304.2:c.817T>C NP_001341233.1:p.Ser273Pro