Canonical Allele Identifier: CA2620514349
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852742A>G , CM000674.2:g.102852742A>G GRCh38
NC_000012.11:g.103246520A>G , CM000674.1:g.103246520A>G GRCh37
NC_000012.10:g.101770650A>G NCBI36
NG_008690.1:g.69861T>C
NG_008690.2:g.110669T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842+73T>C MANE Select ENSP00000448059.1:n.842+73T>C
ENST00000307000.7:c.827+73T>C ENSP00000303500.2:n.827+73T>C
ENST00000549247.6:n.601+73T>C
ENST00000553106.5:c.842+73T>C ENSP00000448059.1:n.842+73T>C
ENST00000635477.1:c.3+73T>C
NM_000277.1:c.842+73T>C NP_000268.1:n.842+73T>C
XM_011538422.1:c.842+73T>C XP_011536724.1:n.842+73T>C
NM_000277.2:c.842+73T>C NP_000268.1:n.842+73T>C
NM_001354304.1:c.842+73T>C NP_001341233.1:n.842+73T>C
NM_000277.3:c.842+73T>C MANE Select NP_000268.1:n.842+73T>C
NM_001354304.2:c.842+73T>C NP_001341233.1:n.842+73T>C