Canonical Allele Identifier: CA2059447860
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874729947
gnomAD v4: 12-102844293-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844293C>T , CM000674.2:g.102844293C>T GRCh38
NC_000012.11:g.103238071C>T , CM000674.1:g.103238071C>T GRCh37
NC_000012.10:g.101762201C>T NCBI36
NG_008690.1:g.78310G>A
NG_008690.2:g.119118G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1065+43G>A MANE Select ENSP00000448059.1:n.1065+43G>A
ENST00000307000.7:c.1050+43G>A ENSP00000303500.2:n.1050+43G>A
ENST00000549247.6:n.824+43G>A
ENST00000551114.2:n.727+43G>A
ENST00000553106.5:c.1065+43G>A ENSP00000448059.1:n.1065+43G>A
ENST00000635477.1:c.169+43G>A
ENST00000635528.1:n.580+43G>A
NM_000277.1:c.1065+43G>A NP_000268.1:n.1065+43G>A
XM_011538422.1:c.1008+43G>A XP_011536724.1:n.1008+43G>A
NM_000277.2:c.1065+43G>A NP_000268.1:n.1065+43G>A
NM_001354304.1:c.1065+43G>A NP_001341233.1:n.1065+43G>A
NM_000277.3:c.1065+43G>A MANE Select NP_000268.1:n.1065+43G>A
NM_001354304.2:c.1065+43G>A NP_001341233.1:n.1065+43G>A
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