Canonical Allele Identifier: CA2573147921
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1461069
ClinVar RCV Id: RCV001983238
dbSNP Id: rs2136639713
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846960G>A , CM000674.2:g.102846960G>A GRCh38
NC_000012.11:g.103240738G>A , CM000674.1:g.103240738G>A GRCh37
NC_000012.10:g.101764868G>A NCBI36
NG_008690.1:g.75643C>T
NG_008690.2:g.116451C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.913-9C>T MANE Select ENSP00000448059.1:n.913-9C>T
ENST00000307000.7:c.898-9C>T ENSP00000303500.2:n.898-9C>T
ENST00000549247.6:n.672-9C>T
ENST00000551114.2:n.575-9C>T
ENST00000553106.5:c.913-9C>T ENSP00000448059.1:n.913-9C>T
ENST00000635477.1:c.74-2529C>T
ENST00000635528.1:n.419C>T
NM_000277.1:c.913-9C>T NP_000268.1:n.913-9C>T
XM_011538422.1:c.913-2529C>T XP_011536724.1:n.913-2529C>T
NM_000277.2:c.913-9C>T NP_000268.1:n.913-9C>T
NM_001354304.1:c.913-9C>T NP_001341233.1:n.913-9C>T
NM_000277.3:c.913-9C>T MANE Select NP_000268.1:n.913-9C>T
NM_001354304.2:c.913-9C>T NP_001341233.1:n.913-9C>T
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