Canonical Allele Identifier: CA386493026
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840455C>G , CM000674.2:g.102840455C>G GRCh38
NC_000012.11:g.103234233C>G , CM000674.1:g.103234233C>G GRCh37
NC_000012.10:g.101758363C>G NCBI36
NG_008690.1:g.82148G>C
NG_008690.2:g.122956G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1260G>C MANE Select ENSP00000448059.1:p.Arg420Ser
ENST00000307000.7:c.1245G>C ENSP00000303500.2:p.Arg415Ser
ENST00000551114.2:n.922G>C
ENST00000553106.5:c.1260G>C ENSP00000448059.1:p.Arg420Ser
ENST00000635477.1:c.364G>C
ENST00000635528.1:n.775G>C
NM_000277.1:c.1260G>C NP_000268.1:p.Arg420Ser
XM_011538422.1:c.1203G>C XP_011536724.1:p.Arg401Ser
NM_000277.2:c.1260G>C NP_000268.1:p.Arg420Ser
NM_001354304.1:c.1260G>C NP_001341233.1:p.Arg420Ser
NM_000277.3:c.1260G>C MANE Select NP_000268.1:p.Arg420Ser
NM_001354304.2:c.1260G>C NP_001341233.1:p.Arg420Ser