Canonical Allele Identifier: CA229742

Gene: PAH

Linked Data

• ClinVar Variation Id: 102823
• ClinVar RCV Id: RCV000089078 ; RCV000674327
• dbSNP Id: rs5030847
• MyVariant Identifiers: chr12:g.103246681G>C (hg19) ; chr12:g.102852903G>C (hg38)
• ERepo: CA229742/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852903G>C , CM000674.2:g.102852903G>C	GRCh38
NC_000012.11:g.103246681G>C , CM000674.1:g.103246681G>C	GRCh37
NC_000012.10:g.101770811G>C	NCBI36
NG_008690.1:g.69700C>G
NG_008690.2:g.110508C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.754C>G MANE Select	ENSP00000448059.1:p.Arg252Gly
ENST00000307000.7:c.739C>G	ENSP00000303500.2:p.Arg247Gly
ENST00000549247.6:n.513C>G
ENST00000553106.5:c.754C>G	ENSP00000448059.1:p.Arg252Gly
NM_000277.1:c.754C>G	NP_000268.1:p.Arg252Gly
XM_011538422.1:c.754C>G	XP_011536724.1:p.Arg252Gly
NM_000277.2:c.754C>G	NP_000268.1:p.Arg252Gly
NM_001354304.1:c.754C>G	NP_001341233.1:p.Arg252Gly
NM_000277.3:c.754C>G MANE Select	NP_000268.1:p.Arg252Gly
NM_001354304.2:c.754C>G	NP_001341233.1:p.Arg252Gly