Canonical Allele Identifier: CA386296723
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 499662
ClinVar RCV Id: RCV000592101
dbSNP Id: rs1555204715
MyVariant Identifiers: chr12:g.103249013A>T (hg19) chr12:g.102855235A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855235A>T , CM000674.2:g.102855235A>T GRCh38
NC_000012.11:g.103249013A>T , CM000674.1:g.103249013A>T GRCh37
NC_000012.10:g.101773143A>T NCBI36
NG_008690.1:g.67368T>A
NG_008690.2:g.108176T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.607T>A MANE Select ENSP00000448059.1:p.Cys203Ser
ENST00000307000.7:c.592T>A ENSP00000303500.2:p.Cys198Ser
ENST00000549111.5:n.703T>A
ENST00000553106.5:c.607T>A ENSP00000448059.1:p.Cys203Ser
NM_000277.1:c.607T>A NP_000268.1:p.Cys203Ser
XM_011538422.1:c.607T>A XP_011536724.1:p.Cys203Ser
NM_000277.2:c.607T>A NP_000268.1:p.Cys203Ser
NM_001354304.1:c.607T>A NP_001341233.1:p.Cys203Ser
XM_017019370.2:c.607T>A XP_016874859.1:p.Cys203Ser
NM_000277.3:c.607T>A MANE Select NP_000268.1:p.Cys203Ser
NM_001354304.2:c.607T>A NP_001341233.1:p.Cys203Ser
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