Canonical Allele Identifier: CA6748989
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1990037
ClinVar RCV Id: RCV002771129
dbSNP Id: rs746603180

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894830C>T , CM000674.2:g.102894830C>T GRCh38
NC_000012.11:g.103288608C>T , CM000674.1:g.103288608C>T GRCh37
NC_000012.10:g.101812738C>T NCBI36
NG_008690.1:g.27773G>A
NG_008690.2:g.68581G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.257G>A MANE Select ENSP00000448059.1:p.Arg86His
ENST00000307000.7:c.242G>A ENSP00000303500.2:p.Arg81His
ENST00000546844.1:c.257G>A ENSP00000446658.1:p.Arg86His
ENST00000548677.2:n.344G>A
ENST00000548928.1:n.179G>A
ENST00000549111.5:n.353G>A
ENST00000550978.6:c.241G>A
ENST00000551337.5:c.257G>A ENSP00000447620.1:p.Arg86His
ENST00000551988.5:n.346G>A
ENST00000553106.5:c.257G>A ENSP00000448059.1:p.Arg86His
NM_000277.1:c.257G>A NP_000268.1:p.Arg86His
XM_011538422.1:c.257G>A XP_011536724.1:p.Arg86His
NM_000277.2:c.257G>A NP_000268.1:p.Arg86His
NM_001354304.1:c.257G>A NP_001341233.1:p.Arg86His
XM_017019370.2:c.257G>A XP_016874859.1:p.Arg86His
NM_000277.3:c.257G>A MANE Select NP_000268.1:p.Arg86His
NM_001354304.2:c.257G>A NP_001341233.1:p.Arg86His