Canonical Allele Identifier: CA220589
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 589
dbSNP Id: rs5030851

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852815G>A , CM000674.2:g.102852815G>A GRCh38
NC_000012.11:g.103246593G>A , CM000674.1:g.103246593G>A GRCh37
NC_000012.10:g.101770723G>A NCBI36
NG_008690.1:g.69788C>T
NG_008690.2:g.110596C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.842C>T MANE Select ENSP00000448059.1:p.Pro281Leu
ENST00000307000.7:c.827C>T ENSP00000303500.2:p.Pro276Leu
ENST00000549247.6:n.601C>T
ENST00000553106.5:c.842C>T ENSP00000448059.1:p.Pro281Leu
ENST00000635477.1:n.3C>T
NM_000277.1:c.842C>T NP_000268.1:p.Pro281Leu
XM_011538422.1:c.842C>T XP_011536724.1:p.Pro281Leu
NM_000277.2:c.842C>T NP_000268.1:p.Pro281Leu
NM_001354304.1:c.842C>T NP_001341233.1:p.Pro281Leu
NM_000277.3:c.842C>T MANE Select NP_000268.1:p.Pro281Leu
NM_001354304.2:c.842C>T NP_001341233.1:p.Pro281Leu