Canonical Allele Identifier: CA16020992
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932270
ClinVar RCV Id: RCV001200005

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840403T>C , CM000674.2:g.102840403T>C GRCh38
NC_000012.11:g.103234181T>C , CM000674.1:g.103234181T>C GRCh37
NC_000012.10:g.101758311T>C NCBI36
NG_008690.1:g.82200A>G
NG_008690.2:g.123008A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1312A>G MANE Select ENSP00000448059.1:p.Asn438Asp
ENST00000307000.7:c.1297A>G ENSP00000303500.2:p.Asn433Asp
ENST00000551114.2:n.974A>G
ENST00000553106.5:c.1312A>G ENSP00000448059.1:p.Asn438Asp
ENST00000635477.1:n.416A>G
ENST00000635528.1:n.827A>G
NM_000277.1:c.1312A>G NP_000268.1:p.Asn438Asp
XM_011538422.1:c.1255A>G XP_011536724.1:p.Asn419Asp
NM_000277.2:c.1312A>G NP_000268.1:p.Asn438Asp
NM_001354304.1:c.1312A>G NP_001341233.1:p.Asn438Asp
NM_000277.3:c.1312A>G MANE Select NP_000268.1:p.Asn438Asp
NM_001354304.2:c.1312A>G NP_001341233.1:p.Asn438Asp