Canonical Allele Identifier: CA229719

Gene: PAH

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

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