Canonical Allele Identifier: CA2575266826
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2768314
ClinVar RCV Id: RCV003496691
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846906_102846907insAA , CM000674.2:g.102846906_102846907insAA GRCh38
NC_000012.11:g.103240684_103240685insAA , CM000674.1:g.103240684_103240685insAA GRCh37
NC_000012.10:g.101764814_101764815insAA NCBI36
NG_008690.1:g.75696_75697insTT
NG_008690.2:g.116504_116505insTT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.957_958insTT MANE Select ENSP00000448059.1:p.Lys320LeufsTer22
ENST00000307000.7:c.942_943insTT ENSP00000303500.2:p.Lys315LeufsTer22
ENST00000549247.6:n.716_717insTT
ENST00000551114.2:n.619_620insTT
ENST00000553106.5:c.957_958insTT ENSP00000448059.1:p.Lys320LeufsTer22
ENST00000635477.1:c.74-2476_74-2475insTT
ENST00000635528.1:n.472_473insTT
NM_000277.1:c.957_958insTT NP_000268.1:p.Lys320LeufsTer22
XM_011538422.1:c.913-2476_913-2475insTT XP_011536724.1:n.913-2476_913-2475insTT
NM_000277.2:c.957_958insTT NP_000268.1:p.Lys320LeufsTer22
NM_001354304.1:c.957_958insTT NP_001341233.1:p.Lys320LeufsTer22
NM_000277.3:c.957_958insTT MANE Select NP_000268.1:p.Lys320LeufsTer22
NM_001354304.2:c.957_958insTT NP_001341233.1:p.Lys320LeufsTer22
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