Canonical Allele Identifier: CA229665
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102765
dbSNP Id: rs62508721

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855222T>C , CM000674.2:g.102855222T>C GRCh38
NC_000012.11:g.103249000T>C , CM000674.1:g.103249000T>C GRCh37
NC_000012.10:g.101773130T>C NCBI36
NG_008690.1:g.67381A>G
NG_008690.2:g.108189A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.620A>G MANE Select ENSP00000448059.1:p.Asn207Ser
ENST00000307000.7:c.605A>G ENSP00000303500.2:p.Asn202Ser
ENST00000549111.5:n.716A>G
ENST00000553106.5:c.620A>G ENSP00000448059.1:p.Asn207Ser
NM_000277.1:c.620A>G NP_000268.1:p.Asn207Ser
XM_011538422.1:c.620A>G XP_011536724.1:p.Asn207Ser
NM_000277.2:c.620A>G NP_000268.1:p.Asn207Ser
NM_001354304.1:c.620A>G NP_001341233.1:p.Asn207Ser
XM_017019370.2:c.620A>G XP_016874859.1:p.Asn207Ser
NM_000277.3:c.620A>G MANE Select NP_000268.1:p.Asn207Ser
NM_001354304.2:c.620A>G NP_001341233.1:p.Asn207Ser