Canonical Allele Identifier: CA242743457
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs899129158

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840481C>A , CM000674.2:g.102840481C>A GRCh38
NC_000012.11:g.103234259C>A , CM000674.1:g.103234259C>A GRCh37
NC_000012.10:g.101758389C>A NCBI36
NG_008690.1:g.82122G>T
NG_008690.2:g.122930G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1234G>T MANE Select ENSP00000448059.1:p.Val412Phe
ENST00000307000.7:c.1219G>T ENSP00000303500.2:p.Val407Phe
ENST00000551114.2:n.896G>T
ENST00000553106.5:c.1234G>T ENSP00000448059.1:p.Val412Phe
ENST00000635477.1:c.338G>T
ENST00000635528.1:n.749G>T
NM_000277.1:c.1234G>T NP_000268.1:p.Val412Phe
XM_011538422.1:c.1177G>T XP_011536724.1:p.Val393Phe
NM_000277.2:c.1234G>T NP_000268.1:p.Val412Phe
NM_001354304.1:c.1234G>T NP_001341233.1:p.Val412Phe
NM_000277.3:c.1234G>T MANE Select NP_000268.1:p.Val412Phe
NM_001354304.2:c.1234G>T NP_001341233.1:p.Val412Phe