Canonical Allele Identifier: CA386493109
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103234288A>T (hg19) chr12:g.102840510A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840510A>T , CM000674.2:g.102840510A>T GRCh38
NC_000012.11:g.103234288A>T , CM000674.1:g.103234288A>T GRCh37
NC_000012.10:g.101758418A>T NCBI36
NG_008690.1:g.82093T>A
NG_008690.2:g.122901T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1205T>A MANE Select ENSP00000448059.1:p.Phe402Tyr
ENST00000307000.7:c.1190T>A ENSP00000303500.2:p.Phe397Tyr
ENST00000551114.2:n.867T>A
ENST00000553106.5:c.1205T>A ENSP00000448059.1:p.Phe402Tyr
ENST00000635477.1:c.309T>A
ENST00000635528.1:n.720T>A
NM_000277.1:c.1205T>A NP_000268.1:p.Phe402Tyr
XM_011538422.1:c.1148T>A XP_011536724.1:p.Phe383Tyr
NM_000277.2:c.1205T>A NP_000268.1:p.Phe402Tyr
NM_001354304.1:c.1205T>A NP_001341233.1:p.Phe402Tyr
NM_000277.3:c.1205T>A MANE Select NP_000268.1:p.Phe402Tyr
NM_001354304.2:c.1205T>A NP_001341233.1:p.Phe402Tyr
Search 100 bp 5'
Search 100 bp 3'