Canonical Allele Identifier: CA16040586
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840516dup , CM000674.2:g.102840516dup GRCh38
NC_000012.11:g.103234294dup , CM000674.1:g.103234294dup GRCh37
NC_000012.10:g.101758424dup NCBI36
NG_008690.1:g.82088dup
NG_008690.2:g.122896dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200dup
ENST00000307000.7:c.1185dup
ENST00000549247.6:n.959dup
ENST00000551114.2:n.862dup
ENST00000553106.5:c.1200dup
ENST00000635477.1:c.304dup
ENST00000635528.1:n.715dup
NM_000277.1:c.1200dup
XM_011538422.1:c.1143dup
NM_000277.2:c.1200dup
NM_001354304.1:c.1200dup
NM_000277.3:c.1200dup
NM_001354304.2:c.1200dup