Canonical Allele Identifier: CA242743415
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs866416587

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840408G>A , CM000674.2:g.102840408G>A GRCh38
NC_000012.11:g.103234186G>A , CM000674.1:g.103234186G>A GRCh37
NC_000012.10:g.101758316G>A NCBI36
NG_008690.1:g.82195C>T
NG_008690.2:g.123003C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1307C>T MANE Select ENSP00000448059.1:p.Ser436Phe
ENST00000307000.7:c.1292C>T ENSP00000303500.2:p.Ser431Phe
ENST00000551114.2:n.969C>T
ENST00000553106.5:c.1307C>T ENSP00000448059.1:p.Ser436Phe
ENST00000635477.1:n.411C>T
ENST00000635528.1:n.822C>T
NM_000277.1:c.1307C>T NP_000268.1:p.Ser436Phe
XM_011538422.1:c.1250C>T XP_011536724.1:p.Ser417Phe
NM_000277.2:c.1307C>T NP_000268.1:p.Ser436Phe
NM_001354304.1:c.1307C>T NP_001341233.1:p.Ser436Phe
NM_000277.3:c.1307C>T MANE Select NP_000268.1:p.Ser436Phe
NM_001354304.2:c.1307C>T NP_001341233.1:p.Ser436Phe