Canonical Allele Identifier: CA2573147900
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1628585
ClinVar RCV Id: RCV002116207
dbSNP Id: rs777613969
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877454G>A , CM000674.2:g.102877454G>A GRCh38
NC_000012.11:g.103271232G>A , CM000674.1:g.103271232G>A GRCh37
NC_000012.10:g.101795362G>A NCBI36
NG_008690.1:g.45149C>T
NG_008690.2:g.85957C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.441+8C>T MANE Select ENSP00000448059.1:n.441+8C>T
ENST00000307000.7:c.426+8C>T ENSP00000303500.2:n.426+8C>T
ENST00000549111.5:n.537+8C>T
ENST00000550978.6:c.433C>T
ENST00000551988.5:n.530+8C>T
ENST00000553106.5:c.441+8C>T ENSP00000448059.1:n.441+8C>T
NM_000277.1:c.441+8C>T NP_000268.1:n.441+8C>T
XM_011538422.1:c.441+8C>T XP_011536724.1:n.441+8C>T
NM_000277.2:c.441+8C>T NP_000268.1:n.441+8C>T
NM_001354304.1:c.441+8C>T NP_001341233.1:n.441+8C>T
XM_017019370.2:c.441+8C>T XP_016874859.1:n.441+8C>T
NM_000277.3:c.441+8C>T MANE Select NP_000268.1:n.441+8C>T
NM_001354304.2:c.441+8C>T NP_001341233.1:n.441+8C>T
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