Canonical Allele Identifier: CA951247176
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2762402
ClinVar RCV Id: RCV003496026
dbSNP Id: rs1876629542
gnomAD v3: 12-102877564-A-G
gnomAD v4: 12-102877564-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877564A>G , CM000674.2:g.102877564A>G GRCh38
NC_000012.11:g.103271342A>G , CM000674.1:g.103271342A>G GRCh37
NC_000012.10:g.101795472A>G NCBI36
NG_008690.1:g.45039T>C
NG_008690.2:g.85847T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.353-14T>C MANE Select ENSP00000448059.1:n.353-14T>C
ENST00000307000.7:c.338-14T>C ENSP00000303500.2:n.338-14T>C
ENST00000549111.5:n.449-14T>C
ENST00000550978.6:c.337-14T>C
ENST00000551337.5:c.353-14T>C ENSP00000447620.1:n.353-14T>C
ENST00000551988.5:n.442-14T>C
ENST00000553106.5:c.353-14T>C ENSP00000448059.1:n.353-14T>C
NM_000277.1:c.353-14T>C NP_000268.1:n.353-14T>C
XM_011538422.1:c.353-14T>C XP_011536724.1:n.353-14T>C
NM_000277.2:c.353-14T>C NP_000268.1:n.353-14T>C
NM_001354304.1:c.353-14T>C NP_001341233.1:n.353-14T>C
XM_017019370.2:c.353-14T>C XP_016874859.1:n.353-14T>C
NM_000277.3:c.353-14T>C MANE Select NP_000268.1:n.353-14T>C
NM_001354304.2:c.353-14T>C NP_001341233.1:n.353-14T>C
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