Canonical Allele Identifier: CA275935
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 208179
ClinVar RCV Id: RCV000190375
dbSNP Id: rs796064501

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844376G>T , CM000674.2:g.102844376G>T GRCh38
NC_000012.11:g.103238154G>T , CM000674.1:g.103238154G>T GRCh37
NC_000012.10:g.101762284G>T NCBI36
NG_008690.1:g.78227C>A
NG_008690.2:g.119035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1025C>A MANE Select ENSP00000448059.1:p.Ala342Glu
ENST00000307000.7:c.1010C>A ENSP00000303500.2:p.Ala337Glu
ENST00000549247.6:n.784C>A
ENST00000551114.2:n.687C>A
ENST00000553106.5:c.1025C>A ENSP00000448059.1:p.Ala342Glu
ENST00000635477.1:c.129C>A
ENST00000635528.1:n.540C>A
NM_000277.1:c.1025C>A NP_000268.1:p.Ala342Glu
XM_011538422.1:c.968C>A XP_011536724.1:p.Ala323Glu
NM_000277.2:c.1025C>A NP_000268.1:p.Ala342Glu
NM_001354304.1:c.1025C>A NP_001341233.1:p.Ala342Glu
NM_000277.3:c.1025C>A MANE Select NP_000268.1:p.Ala342Glu
NM_001354304.2:c.1025C>A NP_001341233.1:p.Ala342Glu