Canonical Allele Identifier: CA2059441483
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840408_102840409delinsGA , CM000674.2:g.102840408_102840409delinsGA GRCh38
NC_000012.11:g.103234186_103234187delinsGA , CM000674.1:g.103234186_103234187delinsGA GRCh37
NC_000012.10:g.101758316_101758317delinsGA NCBI36
NG_008690.1:g.82194_82195delinsTC
NG_008690.2:g.123002_123003delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1306_1307delinsTC MANE Select ENSP00000448059.1:p.Ser436=
ENST00000307000.7:c.1291_1292delinsTC ENSP00000303500.2:p.Ser431=
ENST00000551114.2:n.968_969delinsTC
ENST00000553106.5:c.1306_1307delinsTC ENSP00000448059.1:p.Ser436=
ENST00000635477.1:n.410_411delinsTC
ENST00000635528.1:n.821_822delinsTC
NM_000277.1:c.1306_1307delinsTC NP_000268.1:p.Ser436=
XM_011538422.1:c.1249_1250delinsTC XP_011536724.1:p.Ser417=
NM_000277.2:c.1306_1307delinsTC NP_000268.1:p.Ser436=
NM_001354304.1:c.1306_1307delinsTC NP_001341233.1:p.Ser436=
NM_000277.3:c.1306_1307delinsTC MANE Select NP_000268.1:p.Ser436=
NM_001354304.2:c.1306_1307delinsTC NP_001341233.1:p.Ser436=