Canonical Allele Identifier: CA229791

Gene: PAH

Linked Data

• ClinVar Variation Id: 102854
• ClinVar RCV Id: RCV000089115 ; RCV000672381
• dbSNP Id: rs62508715
• MyVariant Identifiers: chr12:g.103246611G>C (hg19) ; chr12:g.102852833G>C (hg38)
• ERepo: CA229791/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852833G>C , CM000674.2:g.102852833G>C	GRCh38
NC_000012.11:g.103246611G>C , CM000674.1:g.103246611G>C	GRCh37
NC_000012.10:g.101770741G>C	NCBI36
NG_008690.1:g.69770C>G
NG_008690.2:g.110578C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.824C>G MANE Select	ENSP00000448059.1:p.Pro275Arg
ENST00000307000.7:c.809C>G	ENSP00000303500.2:p.Pro270Arg
ENST00000549247.6:n.583C>G
ENST00000553106.5:c.824C>G	ENSP00000448059.1:p.Pro275Arg
NM_000277.1:c.824C>G	NP_000268.1:p.Pro275Arg
XM_011538422.1:c.824C>G	XP_011536724.1:p.Pro275Arg
NM_000277.2:c.824C>G	NP_000268.1:p.Pro275Arg
NM_001354304.1:c.824C>G	NP_001341233.1:p.Pro275Arg
NM_000277.3:c.824C>G MANE Select	NP_000268.1:p.Pro275Arg
NM_001354304.2:c.824C>G	NP_001341233.1:p.Pro275Arg