Canonical Allele Identifier: CA2059448972
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874751668
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844663A>G , CM000674.2:g.102844663A>G GRCh38
NC_000012.11:g.103238441A>G , CM000674.1:g.103238441A>G GRCh37
NC_000012.10:g.101762571A>G NCBI36
NG_008690.1:g.77940T>C
NG_008690.2:g.118748T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-232T>C MANE Select ENSP00000448059.1:n.970-232T>C
ENST00000307000.7:c.955-232T>C ENSP00000303500.2:n.955-232T>C
ENST00000549247.6:n.729-232T>C
ENST00000551114.2:n.632-232T>C
ENST00000553106.5:c.970-232T>C ENSP00000448059.1:n.970-232T>C
ENST00000635477.1:c.74-232T>C
ENST00000635528.1:n.485-232T>C
NM_000277.1:c.970-232T>C NP_000268.1:n.970-232T>C
XM_011538422.1:c.913-232T>C XP_011536724.1:n.913-232T>C
NM_000277.2:c.970-232T>C NP_000268.1:n.970-232T>C
NM_001354304.1:c.970-232T>C NP_001341233.1:n.970-232T>C
NM_000277.3:c.970-232T>C MANE Select NP_000268.1:n.970-232T>C
NM_001354304.2:c.970-232T>C NP_001341233.1:n.970-232T>C
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