Canonical Allele Identifier: CA386493377
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844337T>G , CM000674.2:g.102844337T>G GRCh38
NC_000012.11:g.103238115T>G , CM000674.1:g.103238115T>G GRCh37
NC_000012.10:g.101762245T>G NCBI36
NG_008690.1:g.78266A>C
NG_008690.2:g.119074A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1064A>C MANE Select ENSP00000448059.1:p.Gln355Pro
ENST00000307000.7:c.1049A>C ENSP00000303500.2:p.Gln350Pro
ENST00000549247.6:n.823A>C
ENST00000551114.2:n.726A>C
ENST00000553106.5:c.1064A>C ENSP00000448059.1:p.Gln355Pro
ENST00000635477.1:c.168A>C
ENST00000635528.1:n.579A>C
NM_000277.1:c.1064A>C NP_000268.1:p.Gln355Pro
XM_011538422.1:c.1007A>C XP_011536724.1:p.Gln336Pro
NM_000277.2:c.1064A>C NP_000268.1:p.Gln355Pro
NM_001354304.1:c.1064A>C NP_001341233.1:p.Gln355Pro
NM_000277.3:c.1064A>C MANE Select NP_000268.1:p.Gln355Pro
NM_001354304.2:c.1064A>C NP_001341233.1:p.Gln355Pro