Canonical Allele Identifier: CA386492916
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840402T>A , CM000674.2:g.102840402T>A GRCh38
NC_000012.11:g.103234180T>A , CM000674.1:g.103234180T>A GRCh37
NC_000012.10:g.101758310T>A NCBI36
NG_008690.1:g.82201A>T
NG_008690.2:g.123009A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1313A>T MANE Select ENSP00000448059.1:p.Asn438Ile
ENST00000307000.7:c.1298A>T ENSP00000303500.2:p.Asn433Ile
ENST00000551114.2:n.975A>T
ENST00000553106.5:c.1313A>T ENSP00000448059.1:p.Asn438Ile
ENST00000635477.1:n.417A>T
ENST00000635528.1:n.828A>T
NM_000277.1:c.1313A>T NP_000268.1:p.Asn438Ile
XM_011538422.1:c.1256A>T XP_011536724.1:p.Asn419Ile
NM_000277.2:c.1313A>T NP_000268.1:p.Asn438Ile
NM_001354304.1:c.1313A>T NP_001341233.1:p.Asn438Ile
NM_000277.3:c.1313A>T MANE Select NP_000268.1:p.Asn438Ile
NM_001354304.2:c.1313A>T NP_001341233.1:p.Asn438Ile