Canonical Allele Identifier: CA229667
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102767
ClinVar RCV Id: RCV000089017 RCV000411734
dbSNP Id: rs62514929
ExAC: 12:103248987 TG / T
gnomAD v2: 12-103248987-TG-T
gnomAD v4: 12-102855209-TG-T
MyVariant Identifiers: chr12:g.103248988del (hg19) chr12:g.102855210del (hg38)
ERepo: CA229667/MONDO:0009861/006
PubMed: PMID:8659548 PMID:17502162 PMID:18299955 PMID:23430918 PMID:23942198 PMID:26413448 PMID:26666653
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855211del , CM000674.2:g.102855211del GRCh38
NC_000012.11:g.103248989del , CM000674.1:g.103248989del GRCh37
NC_000012.10:g.101773119del NCBI36
NG_008690.1:g.67393del
NG_008690.2:g.108201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.632del MANE Select ENSP00000448059.1:p.Pro211HisfsTer?
ENST00000307000.7:c.617del ENSP00000303500.2:p.Pro206HisfsTer?
ENST00000549111.5:n.728del
ENST00000553106.5:c.632del ENSP00000448059.1:p.Pro211HisfsTer?
NM_000277.1:c.632del NP_000268.1:p.Pro211HisfsTer?
XM_011538422.1:c.632del XP_011536724.1:p.Pro211HisfsTer?
NM_000277.2:c.632del NP_000268.1:p.Pro211HisfsTer?
NM_001354304.1:c.632del NP_001341233.1:p.Pro211HisfsTer?
XM_017019370.2:c.632del XP_016874859.1:p.Pro211HisfsTer?
NM_000277.3:c.632del MANE Select NP_000268.1:p.Pro211HisfsTer?
NM_001354304.2:c.632del NP_001341233.1:p.Pro211HisfsTer?
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