Canonical Allele Identifier: CA682813975
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866481_102866484dup , CM000674.2:g.102866481_102866484dup GRCh38
NC_000012.11:g.103260259_103260262dup , CM000674.1:g.103260259_103260262dup GRCh37
NC_000012.10:g.101784389_101784392dup NCBI36
NG_008690.1:g.56119_56122dup
NG_008690.2:g.96927_96930dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+112_509+115dup MANE Select ENSP00000448059.1:n.509+112_509+115dup
ENST00000307000.7:c.494+112_494+115dup ENSP00000303500.2:n.494+112_494+115dup
ENST00000549111.5:n.605+112_605+115dup
ENST00000551988.5:n.530+10978_530+10981dup
ENST00000553106.5:c.509+112_509+115dup ENSP00000448059.1:n.509+112_509+115dup
NM_000277.1:c.509+112_509+115dup NP_000268.1:n.509+112_509+115dup
XM_011538422.1:c.509+112_509+115dup XP_011536724.1:n.509+112_509+115dup
NM_000277.2:c.509+112_509+115dup NP_000268.1:n.509+112_509+115dup
NM_001354304.1:c.509+112_509+115dup NP_001341233.1:n.509+112_509+115dup
XM_017019370.2:c.509+112_509+115dup XP_016874859.1:n.509+112_509+115dup
NM_000277.3:c.509+112_509+115dup MANE Select NP_000268.1:n.509+112_509+115dup
NM_001354304.2:c.509+112_509+115dup NP_001341233.1:n.509+112_509+115dup
Search 100 bp 5'
Search 100 bp 3'