Canonical Allele Identifier: CA6748995
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 650381
ClinVar RCV Id: RCV000805522
dbSNP Id: rs767453024

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894864C>T , CM000674.2:g.102894864C>T GRCh38
NC_000012.11:g.103288642C>T , CM000674.1:g.103288642C>T GRCh37
NC_000012.10:g.101812772C>T NCBI36
NG_008690.1:g.27739G>A
NG_008690.2:g.68547G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.223G>A MANE Select ENSP00000448059.1:p.Asp75Asn
ENST00000307000.7:c.208G>A ENSP00000303500.2:p.Asp70Asn
ENST00000546844.1:c.223G>A ENSP00000446658.1:p.Asp75Asn
ENST00000548677.2:n.310G>A
ENST00000548928.1:n.145G>A
ENST00000549111.5:n.319G>A
ENST00000550978.6:c.207G>A
ENST00000551337.5:c.223G>A ENSP00000447620.1:p.Asp75Asn
ENST00000551988.5:n.312G>A
ENST00000553106.5:c.223G>A ENSP00000448059.1:p.Asp75Asn
NM_000277.1:c.223G>A NP_000268.1:p.Asp75Asn
XM_011538422.1:c.223G>A XP_011536724.1:p.Asp75Asn
NM_000277.2:c.223G>A NP_000268.1:p.Asp75Asn
NM_001354304.1:c.223G>A NP_001341233.1:p.Asp75Asn
XM_017019370.2:c.223G>A XP_016874859.1:p.Asp75Asn
NM_000277.3:c.223G>A MANE Select NP_000268.1:p.Asp75Asn
NM_001354304.2:c.223G>A NP_001341233.1:p.Asp75Asn