Canonical Allele Identifier: CA16020949
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370701
ClinVar RCV Id: RCV000409716

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843698G>A , CM000674.2:g.102843698G>A GRCh38
NC_000012.10:g.101761606G>A NCBI36
NC_000012.11:g.103237476G>A , CM000674.1:g.103237476G>A GRCh37
NG_008690.1:g.78905C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307000.7:c.1132C>T ENSP00000303500.2:p.Gln378Ter
ENST00000549247.6:n.906C>T
ENST00000551114.2:n.809C>T
ENST00000553106.5:c.1147C>T ENSP00000448059.1:p.Gln383Ter
ENST00000635477.1:n.251C>T
ENST00000635528.1:n.662C>T
NM_000277.1:c.1147C>T NP_000268.1:p.Gln383Ter
XM_011538422.1:c.1090C>T XP_011536724.1:p.Gln364Ter