Canonical Allele Identifier: CA386291545
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846902A>G , CM000674.2:g.102846902A>G GRCh38
NC_000012.11:g.103240680A>G , CM000674.1:g.103240680A>G GRCh37
NC_000012.10:g.101764810A>G NCBI36
NG_008690.1:g.75701T>C
NG_008690.2:g.116509T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.962T>C MANE Select ENSP00000448059.1:p.Leu321Pro
ENST00000307000.7:c.947T>C ENSP00000303500.2:p.Leu316Pro
ENST00000549247.6:n.721T>C
ENST00000551114.2:n.624T>C
ENST00000553106.5:c.962T>C ENSP00000448059.1:p.Leu321Pro
ENST00000635477.1:n.74-2471T>C
ENST00000635528.1:n.477T>C
NM_000277.1:c.962T>C NP_000268.1:p.Leu321Pro
XM_011538422.1:c.913-2471T>C XP_011536724.1:n.913-2471T>C
NM_000277.2:c.962T>C NP_000268.1:p.Leu321Pro
NM_001354304.1:c.962T>C NP_001341233.1:p.Leu321Pro
NM_000277.3:c.962T>C MANE Select NP_000268.1:p.Leu321Pro
NM_001354304.2:c.962T>C NP_001341233.1:p.Leu321Pro