Canonical Allele Identifier: CA386294554
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852836T>G , CM000674.2:g.102852836T>G GRCh38
NC_000012.11:g.103246614T>G , CM000674.1:g.103246614T>G GRCh37
NC_000012.10:g.101770744T>G NCBI36
NG_008690.1:g.69767A>C
NG_008690.2:g.110575A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.821A>C MANE Select ENSP00000448059.1:p.Lys274Thr
ENST00000307000.7:c.806A>C ENSP00000303500.2:p.Lys269Thr
ENST00000549247.6:n.580A>C
ENST00000553106.5:c.821A>C ENSP00000448059.1:p.Lys274Thr
NM_000277.1:c.821A>C NP_000268.1:p.Lys274Thr
XM_011538422.1:c.821A>C XP_011536724.1:p.Lys274Thr
NM_000277.2:c.821A>C NP_000268.1:p.Lys274Thr
NM_001354304.1:c.821A>C NP_001341233.1:p.Lys274Thr
NM_000277.3:c.821A>C MANE Select NP_000268.1:p.Lys274Thr
NM_001354304.2:c.821A>C NP_001341233.1:p.Lys274Thr