Canonical Allele Identifier: CA242744276
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs199475490

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843778_102843779insTA , CM000674.2:g.102843778_102843779insTA GRCh38
NC_000012.11:g.103237556_103237557insTA , CM000674.1:g.103237556_103237557insTA GRCh37
NC_000012.10:g.101761686_101761687insTA NCBI36
NG_008690.1:g.78824_78825insTA
NG_008690.2:g.119632_119633insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1066_1067insTA MANE Select ENSP00000448059.1:p.Tyr356LeufsTer?
ENST00000307000.7:c.1051_1052insTA ENSP00000303500.2:p.Tyr351LeufsTer?
ENST00000549247.6:n.825_826insTA
ENST00000551114.2:n.728_729insTA
ENST00000553106.5:c.1066_1067insTA ENSP00000448059.1:p.Tyr356LeufsTer?
ENST00000635477.1:c.170_171insTA
ENST00000635528.1:n.581_582insTA
NM_000277.1:c.1066_1067insTA NP_000268.1:p.Tyr356LeufsTer?
XM_011538422.1:c.1009_1010insTA XP_011536724.1:p.Tyr337LeufsTer?
NM_000277.2:c.1066_1067insTA NP_000268.1:p.Tyr356LeufsTer?
NM_001354304.1:c.1066_1067insTA NP_001341233.1:p.Tyr356LeufsTer?
NM_000277.3:c.1066_1067insTA MANE Select NP_000268.1:p.Tyr356LeufsTer?
NM_001354304.2:c.1066_1067insTA NP_001341233.1:p.Tyr356LeufsTer?