Canonical Allele Identifier: CA229694

Gene: PAH

Linked Data

• ClinVar Variation Id: 102786
• ClinVar RCV Id: RCV000089037 ; RCV000190611
• dbSNP Id: rs5030845
• MyVariant Identifiers: chr12:g.103248929A>G (hg19) ; chr12:g.102855151A>G (hg38)
• PubMed: PMID:8535444 ; PMID:10196714 ; PMID:18346471 ; PMID:22763404 ; PMID:24301756

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855151A>G , CM000674.2:g.102855151A>G	GRCh38
NC_000012.11:g.103248929A>G , CM000674.1:g.103248929A>G	GRCh37
NC_000012.10:g.101773059A>G	NCBI36
NG_008690.1:g.67452T>C
NG_008690.2:g.108260T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.691T>C MANE Select	ENSP00000448059.1:p.Ser231Pro
ENST00000307000.7:c.676T>C	ENSP00000303500.2:p.Ser226Pro
ENST00000549111.5:n.787T>C
ENST00000553106.5:c.691T>C	ENSP00000448059.1:p.Ser231Pro
NM_000277.1:c.691T>C	NP_000268.1:p.Ser231Pro
XM_011538422.1:c.691T>C	XP_011536724.1:p.Ser231Pro
NM_000277.2:c.691T>C	NP_000268.1:p.Ser231Pro
NM_001354304.1:c.691T>C	NP_001341233.1:p.Ser231Pro
XM_017019370.2:c.691T>C	XP_016874859.1:p.Ser231Pro
NM_000277.3:c.691T>C MANE Select	NP_000268.1:p.Ser231Pro
NM_001354304.2:c.691T>C	NP_001341233.1:p.Ser231Pro