Canonical Allele Identifier: CA3044590796
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852857dup , CM000674.2:g.102852857dup GRCh38
NC_000012.11:g.103246635dup , CM000674.1:g.103246635dup GRCh37
NC_000012.10:g.101770765dup NCBI36
NG_008690.1:g.69746dup
NG_008690.2:g.110554dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.800dup MANE Select ENSP00000448059.1:p.Tyr268ValfsTer15
ENST00000307000.7:c.785dup ENSP00000303500.2:p.Tyr263ValfsTer15
ENST00000549247.6:n.559dup
ENST00000553106.5:c.800dup ENSP00000448059.1:p.Tyr268ValfsTer15
NM_000277.1:c.800dup NP_000268.1:p.Tyr268ValfsTer15
XM_011538422.1:c.800dup XP_011536724.1:p.Tyr268ValfsTer15
NM_000277.2:c.800dup NP_000268.1:p.Tyr268ValfsTer15
NM_001354304.1:c.800dup NP_001341233.1:p.Tyr268ValfsTer15
NM_000277.3:c.800dup MANE Select NP_000268.1:p.Tyr268ValfsTer15
NM_001354304.2:c.800dup NP_001341233.1:p.Tyr268ValfsTer15