Canonical Allele Identifier: CA2059449071
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855148_102855149delinsGA , CM000674.2:g.102855148_102855149delinsGA GRCh38
NC_000012.11:g.103248926_103248927delinsGA , CM000674.1:g.103248926_103248927delinsGA GRCh37
NC_000012.10:g.101773056_101773057delinsGA NCBI36
NG_008690.1:g.67454_67455delinsTC
NG_008690.2:g.108262_108263delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.693_694delinsTC MANE Select ENSP00000448059.1:p.Ser231=
ENST00000307000.7:c.678_679delinsTC ENSP00000303500.2:p.Ser226=
ENST00000549111.5:n.789_790delinsTC
ENST00000553106.5:c.693_694delinsTC ENSP00000448059.1:p.Ser231=
NM_000277.1:c.693_694delinsTC NP_000268.1:p.Ser231=
XM_011538422.1:c.693_694delinsTC XP_011536724.1:p.Ser231=
NM_000277.2:c.693_694delinsTC NP_000268.1:p.Ser231=
NM_001354304.1:c.693_694delinsTC NP_001341233.1:p.Ser231=
XM_017019370.2:c.693_694delinsTC XP_016874859.1:p.Ser231=
NM_000277.3:c.693_694delinsTC MANE Select NP_000268.1:p.Ser231=
NM_001354304.2:c.693_694delinsTC NP_001341233.1:p.Ser231=
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