Canonical Allele Identifier: CA2797244327
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877280_102877303dup , CM000674.2:g.102877280_102877303dup GRCh38
NC_000012.11:g.103271058_103271081dup , CM000674.1:g.103271058_103271081dup GRCh37
NC_000012.10:g.101795188_101795211dup NCBI36
NG_008690.1:g.45300_45323dup
NG_008690.2:g.86108_86131dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+159_441+182dup MANE Select ENSP00000448059.1:n.441+159_441+182dup
ENST00000307000.7:c.426+159_426+182dup ENSP00000303500.2:n.426+159_426+182dup
ENST00000549111.5:n.537+159_537+182dup
ENST00000550978.6:c.584_607dup
ENST00000551988.5:n.530+159_530+182dup
ENST00000553106.5:c.441+159_441+182dup ENSP00000448059.1:n.441+159_441+182dup
NM_000277.1:c.441+159_441+182dup NP_000268.1:n.441+159_441+182dup
XM_011538422.1:c.441+159_441+182dup XP_011536724.1:n.441+159_441+182dup
NM_000277.2:c.441+159_441+182dup NP_000268.1:n.441+159_441+182dup
NM_001354304.1:c.441+159_441+182dup NP_001341233.1:n.441+159_441+182dup
XM_017019370.2:c.441+159_441+182dup XP_016874859.1:n.441+159_441+182dup
NM_000277.3:c.441+159_441+182dup MANE Select NP_000268.1:n.441+159_441+182dup
NM_001354304.2:c.441+159_441+182dup NP_001341233.1:n.441+159_441+182dup