Canonical Allele Identifier: CA2059451308
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846904C= , CM000674.2:g.102846904C= GRCh38
NC_000012.11:g.103240682C= , CM000674.1:g.103240682C= GRCh37
NC_000012.10:g.101764812C= NCBI36
NG_008690.1:g.75699G=
NG_008690.2:g.116507G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.960G= MANE Select ENSP00000448059.1:p.Lys320=
ENST00000307000.7:c.945G= ENSP00000303500.2:p.Lys315=
ENST00000549247.6:n.719G=
ENST00000551114.2:n.622G=
ENST00000553106.5:c.960G= ENSP00000448059.1:p.Lys320=
ENST00000635477.1:n.74-2473G=
ENST00000635528.1:n.475G=
NM_000277.1:c.960G= NP_000268.1:p.Lys320=
XM_011538422.1:c.913-2473G= XP_011536724.1:n.913-2473G=
NM_000277.2:c.960G= NP_000268.1:p.Lys320=
NM_001354304.1:c.960G= NP_001341233.1:p.Lys320=
NM_000277.3:c.960G= MANE Select NP_000268.1:p.Lys320=
NM_001354304.2:c.960G= NP_001341233.1:p.Lys320=