Canonical Allele Identifier: CA2739277292
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2854224
ClinVar RCV Id: RCV003599814
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852804A>G , CM000674.2:g.102852804A>G GRCh38
NC_000012.11:g.103246582A>G , CM000674.1:g.103246582A>G GRCh37
NC_000012.10:g.101770712A>G NCBI36
NG_008690.1:g.69799T>C
NG_008690.2:g.110607T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842+11T>C MANE Select ENSP00000448059.1:n.842+11T>C
ENST00000307000.7:c.827+11T>C ENSP00000303500.2:n.827+11T>C
ENST00000549247.6:n.601+11T>C
ENST00000553106.5:c.842+11T>C ENSP00000448059.1:n.842+11T>C
ENST00000635477.1:c.3+11T>C
NM_000277.1:c.842+11T>C NP_000268.1:n.842+11T>C
XM_011538422.1:c.842+11T>C XP_011536724.1:n.842+11T>C
NM_000277.2:c.842+11T>C NP_000268.1:n.842+11T>C
NM_001354304.1:c.842+11T>C NP_001341233.1:n.842+11T>C
NM_000277.3:c.842+11T>C MANE Select NP_000268.1:n.842+11T>C
NM_001354304.2:c.842+11T>C NP_001341233.1:n.842+11T>C
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