Canonical Allele Identifier: CA6748772
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs535752872
ExAC: 12:103238199 A / T
gnomAD v2: 12-103238199-A-T
gnomAD v3: 12-102844421-A-T
gnomAD v4: 12-102844421-A-T
MyVariant Identifiers: chr12:g.103238199A>T (hg19) chr12:g.102844421A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844421A>T , CM000674.2:g.102844421A>T GRCh38
NC_000012.11:g.103238199A>T , CM000674.1:g.103238199A>T GRCh37
NC_000012.10:g.101762329A>T NCBI36
NG_008690.1:g.78182T>A
NG_008690.2:g.118990T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.980T>A MANE Select ENSP00000448059.1:p.Phe327Tyr
ENST00000307000.7:c.965T>A ENSP00000303500.2:p.Phe322Tyr
ENST00000549247.6:n.739T>A
ENST00000551114.2:n.642T>A
ENST00000553106.5:c.980T>A ENSP00000448059.1:p.Phe327Tyr
ENST00000635477.1:c.84T>A
ENST00000635528.1:n.495T>A
NM_000277.1:c.980T>A NP_000268.1:p.Phe327Tyr
XM_011538422.1:c.923T>A XP_011536724.1:p.Phe308Tyr
NM_000277.2:c.980T>A NP_000268.1:p.Phe327Tyr
NM_001354304.1:c.980T>A NP_001341233.1:p.Phe327Tyr
NM_000277.3:c.980T>A MANE Select NP_000268.1:p.Phe327Tyr
NM_001354304.2:c.980T>A NP_001341233.1:p.Phe327Tyr
Search 100 bp 5'
Search 100 bp 3'