Canonical Allele Identifier: CA229866
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102906
ClinVar RCV Id: RCV000089170 RCV002259597
dbSNP Id: rs62642907
MyVariant Identifiers: chr12:g.103240702del (hg19) chr12:g.102846924del (hg38)
ERepo: CA229866/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846924del , CM000674.2:g.102846924del GRCh38
NC_000012.11:g.103240702del , CM000674.1:g.103240702del GRCh37
NC_000012.10:g.101764832del NCBI36
NG_008690.1:g.75680del
NG_008690.2:g.116488del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.941del MANE Select ENSP00000448059.1:p.Pro314LeufsTer27
ENST00000307000.7:c.926del ENSP00000303500.2:p.Pro309LeufsTer27
ENST00000549247.6:n.700del
ENST00000551114.2:n.603del
ENST00000553106.5:c.941del ENSP00000448059.1:p.Pro314LeufsTer27
ENST00000635477.1:c.74-2492del
ENST00000635528.1:n.456del
NM_000277.1:c.941del NP_000268.1:p.Pro314LeufsTer27
XM_011538422.1:c.913-2492del XP_011536724.1:n.913-2492del
NM_000277.2:c.941del NP_000268.1:p.Pro314LeufsTer27
NM_001354304.1:c.941del NP_001341233.1:p.Pro314LeufsTer27
NM_000277.3:c.941del MANE Select NP_000268.1:p.Pro314LeufsTer27
NM_001354304.2:c.941del NP_001341233.1:p.Pro314LeufsTer27
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