Canonical Allele Identifier: CA229348

Gene: PAH

Linked Data

• ClinVar Variation Id: 102527
• ClinVar RCV Id: RCV000088760 ; RCV001543653
• dbSNP Id: rs62507268
• MyVariant Identifiers: chr12:g.103237511T>C (hg19) ; chr12:g.102843733T>C (hg38)
• ERepo: CA229348/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843733T>C , CM000674.2:g.102843733T>C	GRCh38
NC_000012.11:g.103237511T>C , CM000674.1:g.103237511T>C	GRCh37
NC_000012.10:g.101761641T>C	NCBI36
NG_008690.1:g.78870A>G
NG_008690.2:g.119678A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1112A>G MANE Select	ENSP00000448059.1:p.Lys371Arg
ENST00000307000.7:c.1097A>G	ENSP00000303500.2:p.Lys366Arg
ENST00000549247.6:n.871A>G
ENST00000551114.2:n.774A>G
ENST00000553106.5:c.1112A>G	ENSP00000448059.1:p.Lys371Arg
ENST00000635477.1:c.216A>G
ENST00000635528.1:n.627A>G
NM_000277.1:c.1112A>G	NP_000268.1:p.Lys371Arg
XM_011538422.1:c.1055A>G	XP_011536724.1:p.Lys352Arg
NM_000277.2:c.1112A>G	NP_000268.1:p.Lys371Arg
NM_001354304.1:c.1112A>G	NP_001341233.1:p.Lys371Arg
NM_000277.3:c.1112A>G MANE Select	NP_000268.1:p.Lys371Arg
NM_001354304.2:c.1112A>G	NP_001341233.1:p.Lys371Arg