Canonical Allele Identifier: CA386492911
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840399C>G , CM000674.2:g.102840399C>G GRCh38
NC_000012.11:g.103234177C>G , CM000674.1:g.103234177C>G GRCh37
NC_000012.10:g.101758307C>G NCBI36
NG_008690.1:g.82204G>C
NG_008690.2:g.123012G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+1G>C MANE Select ENSP00000448059.1:p.=
ENST00000307000.7:c.1300+1G>C ENSP00000303500.2:p.=
ENST00000551114.2:n.977+1G>C
ENST00000553106.5:c.1315+1G>C ENSP00000448059.1:p.=
ENST00000635477.1:n.419+1G>C
ENST00000635528.1:n.830+1G>C
NM_000277.1:c.1315+1G>C NP_000268.1:p.=
XM_011538422.1:c.1258+1G>C XP_011536724.1:p.=
NM_000277.2:c.1315+1G>C NP_000268.1:p.=
NM_001354304.1:c.1315+1G>C NP_001341233.1:p.=
NM_000277.3:c.1315+1G>C MANE Select NP_000268.1:p.=
NM_001354304.2:c.1315+1G>C NP_001341233.1:p.=