Canonical Allele Identifier: CA229761
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102834
ClinVar RCV Id: RCV000089093 RCV000758099
dbSNP Id: rs199475580
MyVariant Identifiers: chr12:g.103246644T>A (hg19) chr12:g.102852866T>A (hg38)
ERepo: CA229761/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852866T>A , CM000674.2:g.102852866T>A GRCh38
NC_000012.11:g.103246644T>A , CM000674.1:g.103246644T>A GRCh37
NC_000012.10:g.101770774T>A NCBI36
NG_008690.1:g.69737A>T
NG_008690.2:g.110545A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.791A>T MANE Select ENSP00000448059.1:p.His264Leu
ENST00000307000.7:c.776A>T ENSP00000303500.2:p.His259Leu
ENST00000549247.6:n.550A>T
ENST00000553106.5:c.791A>T ENSP00000448059.1:p.His264Leu
NM_000277.1:c.791A>T NP_000268.1:p.His264Leu
XM_011538422.1:c.791A>T XP_011536724.1:p.His264Leu
NM_000277.2:c.791A>T NP_000268.1:p.His264Leu
NM_001354304.1:c.791A>T NP_001341233.1:p.His264Leu
NM_000277.3:c.791A>T MANE Select NP_000268.1:p.His264Leu
NM_001354304.2:c.791A>T NP_001341233.1:p.His264Leu
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