Canonical Allele Identifier: CA229420
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102582
dbSNP Id: rs199475696

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840453A>G , CM000674.2:g.102840453A>G GRCh38
NC_000012.11:g.103234231A>G , CM000674.1:g.103234231A>G GRCh37
NC_000012.10:g.101758361A>G NCBI36
NG_008690.1:g.82150T>C
NG_008690.2:g.122958T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1262T>C MANE Select ENSP00000448059.1:p.Ile421Thr
ENST00000307000.7:c.1247T>C ENSP00000303500.2:p.Ile416Thr
ENST00000551114.2:n.924T>C
ENST00000553106.5:c.1262T>C ENSP00000448059.1:p.Ile421Thr
ENST00000635477.1:c.366T>C
ENST00000635528.1:n.777T>C
NM_000277.1:c.1262T>C NP_000268.1:p.Ile421Thr
XM_011538422.1:c.1205T>C XP_011536724.1:p.Ile402Thr
NM_000277.2:c.1262T>C NP_000268.1:p.Ile421Thr
NM_001354304.1:c.1262T>C NP_001341233.1:p.Ile421Thr
NM_000277.3:c.1262T>C MANE Select NP_000268.1:p.Ile421Thr
NM_001354304.2:c.1262T>C NP_001341233.1:p.Ile421Thr