Canonical Allele Identifier: CA386492978
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103234210T>A (hg19) chr12:g.102840432T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840432T>A , CM000674.2:g.102840432T>A GRCh38
NC_000012.11:g.103234210T>A , CM000674.1:g.103234210T>A GRCh37
NC_000012.10:g.101758340T>A NCBI36
NG_008690.1:g.82171A>T
NG_008690.2:g.122979A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1283A>T MANE Select ENSP00000448059.1:p.Gln428Leu
ENST00000307000.7:c.1268A>T ENSP00000303500.2:p.Gln423Leu
ENST00000551114.2:n.945A>T
ENST00000553106.5:c.1283A>T ENSP00000448059.1:p.Gln428Leu
ENST00000635477.1:c.387A>T
ENST00000635528.1:n.798A>T
NM_000277.1:c.1283A>T NP_000268.1:p.Gln428Leu
XM_011538422.1:c.1226A>T XP_011536724.1:p.Gln409Leu
NM_000277.2:c.1283A>T NP_000268.1:p.Gln428Leu
NM_001354304.1:c.1283A>T NP_001341233.1:p.Gln428Leu
NM_000277.3:c.1283A>T MANE Select NP_000268.1:p.Gln428Leu
NM_001354304.2:c.1283A>T NP_001341233.1:p.Gln428Leu
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