Canonical Allele Identifier: CA229842

Gene: PAH

Linked Data

• ClinVar Variation Id: 102890
• ClinVar RCV Id: RCV000089152 ; RCV001543639
• dbSNP Id: rs199475608
• MyVariant Identifiers: chr12:g.103245470A>C (hg19) ; chr12:g.102851692A>C (hg38)
• ERepo: CA229842/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851692A>C , CM000674.2:g.102851692A>C	GRCh38
NC_000012.11:g.103245470A>C , CM000674.1:g.103245470A>C	GRCh37
NC_000012.10:g.101769600A>C	NCBI36
NG_008690.1:g.70911T>G
NG_008690.2:g.111719T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.907T>G MANE Select	ENSP00000448059.1:p.Ser303Ala
ENST00000307000.7:c.892T>G	ENSP00000303500.2:p.Ser298Ala
ENST00000549247.6:n.666T>G
ENST00000551114.2:n.569T>G
ENST00000553106.5:c.907T>G	ENSP00000448059.1:p.Ser303Ala
ENST00000635477.1:c.68T>G
NM_000277.1:c.907T>G	NP_000268.1:p.Ser303Ala
XM_011538422.1:c.907T>G	XP_011536724.1:p.Ser303Ala
NM_000277.2:c.907T>G	NP_000268.1:p.Ser303Ala
NM_001354304.1:c.907T>G	NP_001341233.1:p.Ser303Ala
NM_000277.3:c.907T>G MANE Select	NP_000268.1:p.Ser303Ala
NM_001354304.2:c.907T>G	NP_001341233.1:p.Ser303Ala