Canonical Allele Identifier: CA2553029633
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840699_102840700dup , CM000674.2:g.102840699_102840700dup GRCh38
NC_000012.11:g.103234477_103234478dup , CM000674.1:g.103234477_103234478dup GRCh37
NC_000012.10:g.101758607_101758608dup NCBI36
NG_008690.1:g.81904_81905dup
NG_008690.2:g.122712_122713dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-184_1200-183dup MANE Select ENSP00000448059.1:n.1200-184_1200-183dup
ENST00000307000.7:c.1185-184_1185-183dup ENSP00000303500.2:n.1185-184_1185-183dup
ENST00000549247.6:n.959-184_959-183dup
ENST00000551114.2:n.862-184_862-183dup
ENST00000553106.5:c.1200-184_1200-183dup ENSP00000448059.1:n.1200-184_1200-183dup
ENST00000635477.1:c.304-184_304-183dup
ENST00000635528.1:n.715-184_715-183dup
NM_000277.1:c.1200-184_1200-183dup NP_000268.1:n.1200-184_1200-183dup
XM_011538422.1:c.1143-184_1143-183dup XP_011536724.1:n.1143-184_1143-183dup
NM_000277.2:c.1200-184_1200-183dup NP_000268.1:n.1200-184_1200-183dup
NM_001354304.1:c.1200-184_1200-183dup NP_001341233.1:n.1200-184_1200-183dup
NM_000277.3:c.1200-184_1200-183dup MANE Select NP_000268.1:n.1200-184_1200-183dup
NM_001354304.2:c.1200-184_1200-183dup NP_001341233.1:n.1200-184_1200-183dup
Search 100 bp 5'
Search 100 bp 3'