Canonical Allele Identifier: CA2059446122
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874677498
gnomAD v4: 12-102843551-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843551C>T , CM000674.2:g.102843551C>T GRCh38
NC_000012.11:g.103237329C>T , CM000674.1:g.103237329C>T GRCh37
NC_000012.10:g.101761459C>T NCBI36
NG_008690.1:g.79052G>A
NG_008690.2:g.119860G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1199+95G>A MANE Select ENSP00000448059.1:n.1199+95G>A
ENST00000307000.7:c.1184+95G>A ENSP00000303500.2:n.1184+95G>A
ENST00000549247.6:n.958+95G>A
ENST00000551114.2:n.861+95G>A
ENST00000553106.5:c.1199+95G>A ENSP00000448059.1:n.1199+95G>A
ENST00000635477.1:c.303+95G>A
ENST00000635528.1:n.714+95G>A
NM_000277.1:c.1199+95G>A NP_000268.1:n.1199+95G>A
XM_011538422.1:c.1142+95G>A XP_011536724.1:n.1142+95G>A
NM_000277.2:c.1199+95G>A NP_000268.1:n.1199+95G>A
NM_001354304.1:c.1199+95G>A NP_001341233.1:n.1199+95G>A
NM_000277.3:c.1199+95G>A MANE Select NP_000268.1:n.1199+95G>A
NM_001354304.2:c.1199+95G>A NP_001341233.1:n.1199+95G>A
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