Canonical Allele Identifier: CA220584
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92743
ClinVar RCV Id: RCV000078523 RCV000412232
dbSNP Id: rs77554925
ExAC: 12:103260383 T / A
gnomAD v2: 12-103260383-T-A
gnomAD v3: 12-102866605-T-A
gnomAD v4: 12-102866605-T-A
MyVariant Identifiers: chr12:g.103260383T>A (hg19) chr12:g.102866605T>A (hg38)
PubMed: PMID:9012412 PMID:9452062 PMID:10234516 PMID:10598814 PMID:10679941 PMID:12554741 PMID:17924342 PMID:22112818 PMID:23430918 PMID:24368688 PMID:25882749
ERepo: CA220584/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866605T>A , CM000674.2:g.102866605T>A GRCh38
NC_000012.11:g.103260383T>A , CM000674.1:g.103260383T>A GRCh37
NC_000012.10:g.101784513T>A NCBI36
NG_008690.1:g.55998A>T
NG_008690.2:g.96806A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.500A>T MANE Select ENSP00000448059.1:p.Asn167Ile
ENST00000307000.7:c.485A>T ENSP00000303500.2:p.Asn162Ile
ENST00000549111.5:n.596A>T
ENST00000551988.5:n.530+10857A>T
ENST00000553106.5:c.500A>T ENSP00000448059.1:p.Asn167Ile
NM_000277.1:c.500A>T NP_000268.1:p.Asn167Ile
XM_011538422.1:c.500A>T XP_011536724.1:p.Asn167Ile
NM_000277.2:c.500A>T NP_000268.1:p.Asn167Ile
NM_001354304.1:c.500A>T NP_001341233.1:p.Asn167Ile
XM_017019370.2:c.500A>T XP_016874859.1:p.Asn167Ile
NM_000277.3:c.500A>T MANE Select NP_000268.1:p.Asn167Ile
NM_001354304.2:c.500A>T NP_001341233.1:p.Asn167Ile
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