Canonical Allele Identifier: CA229883
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102919
ClinVar RCV Id: RCV000089185
dbSNP Id: rs62507273
MyVariant Identifiers: chr12:g.103238214A>T (hg19) chr12:g.102844436A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844436A>T , CM000674.2:g.102844436A>T GRCh38
NC_000012.11:g.103238214A>T , CM000674.1:g.103238214A>T GRCh37
NC_000012.10:g.101762344A>T NCBI36
NG_008690.1:g.78167T>A
NG_008690.2:g.118975T>A

Transcript Alleles

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