Canonical Allele Identifier: CA386297017
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1325591065

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855318G>C , CM000674.2:g.102855318G>C GRCh38
NC_000012.11:g.103249096G>C , CM000674.1:g.103249096G>C GRCh37
NC_000012.10:g.101773226G>C NCBI36
NG_008690.1:g.67285C>G
NG_008690.2:g.108093C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.524C>G MANE Select ENSP00000448059.1:p.Pro175Arg
ENST00000307000.7:c.509C>G ENSP00000303500.2:p.Pro170Arg
ENST00000549111.5:n.620C>G
ENST00000551988.5:n.545C>G
ENST00000553106.5:c.524C>G ENSP00000448059.1:p.Pro175Arg
NM_000277.1:c.524C>G NP_000268.1:p.Pro175Arg
XM_011538422.1:c.524C>G XP_011536724.1:p.Pro175Arg
NM_000277.2:c.524C>G NP_000268.1:p.Pro175Arg
NM_001354304.1:c.524C>G NP_001341233.1:p.Pro175Arg
XM_017019370.2:c.524C>G XP_016874859.1:p.Pro175Arg
NM_000277.3:c.524C>G MANE Select NP_000268.1:p.Pro175Arg
NM_001354304.2:c.524C>G NP_001341233.1:p.Pro175Arg