Canonical Allele Identifier: CA16041558
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 371497
dbSNP Id: rs567261857

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840433G>A , CM000674.2:g.102840433G>A GRCh38
NC_000012.11:g.103234211G>A , CM000674.1:g.103234211G>A GRCh37
NC_000012.10:g.101758341G>A NCBI36
NG_008690.1:g.82170C>T
NG_008690.2:g.122978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1282C>T MANE Select ENSP00000448059.1:p.Gln428Ter
ENST00000307000.7:c.1267C>T ENSP00000303500.2:p.Gln423Ter
ENST00000551114.2:n.944C>T
ENST00000553106.5:c.1282C>T ENSP00000448059.1:p.Gln428Ter
ENST00000635477.1:c.386C>T
ENST00000635528.1:n.797C>T
NM_000277.1:c.1282C>T NP_000268.1:p.Gln428Ter
XM_011538422.1:c.1225C>T XP_011536724.1:p.Gln409Ter
NM_000277.2:c.1282C>T NP_000268.1:p.Gln428Ter
NM_001354304.1:c.1282C>T NP_001341233.1:p.Gln428Ter
NM_000277.3:c.1282C>T MANE Select NP_000268.1:p.Gln428Ter
NM_001354304.2:c.1282C>T NP_001341233.1:p.Gln428Ter