Canonical Allele Identifier: CA229719
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102808
ClinVar RCV Id: RCV000089060 RCV001543659
dbSNP Id: rs62508588
MyVariant Identifiers: chr12:g.103246707C>A (hg19) chr12:g.102852929C>A (hg38)
ERepo: CA229719/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852929C>A , CM000674.2:g.102852929C>A GRCh38
NC_000012.11:g.103246707C>A , CM000674.1:g.103246707C>A GRCh37
NC_000012.10:g.101770837C>A NCBI36
NG_008690.1:g.69674G>T
NG_008690.2:g.110482G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.728G>T MANE Select ENSP00000448059.1:p.Arg243Leu
ENST00000307000.7:c.713G>T ENSP00000303500.2:p.Arg238Leu
ENST00000549247.6:n.487G>T
ENST00000553106.5:c.728G>T ENSP00000448059.1:p.Arg243Leu
NM_000277.1:c.728G>T NP_000268.1:p.Arg243Leu
XM_011538422.1:c.728G>T XP_011536724.1:p.Arg243Leu
NM_000277.2:c.728G>T NP_000268.1:p.Arg243Leu
NM_001354304.1:c.728G>T NP_001341233.1:p.Arg243Leu
NM_000277.3:c.728G>T MANE Select NP_000268.1:p.Arg243Leu
NM_001354304.2:c.728G>T NP_001341233.1:p.Arg243Leu
Search 100 bp 5'
Search 100 bp 3'