Canonical Allele Identifier: CA229769

Gene: PAH

Linked Data

• ClinVar Variation Id: 102839
• ClinVar RCV Id: RCV000089098 ; RCV000758126
• dbSNP Id: rs199475676
• MyVariant Identifiers: chr12:g.103246636G>C (hg19) ; chr12:g.102852858G>C (hg38)
• ERepo: CA229769/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852858G>C , CM000674.2:g.102852858G>C	GRCh38
NC_000012.11:g.103246636G>C , CM000674.1:g.103246636G>C	GRCh37
NC_000012.10:g.101770766G>C	NCBI36
NG_008690.1:g.69745C>G
NG_008690.2:g.110553C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.799C>G MANE Select	ENSP00000448059.1:p.Gln267Glu
ENST00000307000.7:c.784C>G	ENSP00000303500.2:p.Gln262Glu
ENST00000549247.6:n.558C>G
ENST00000553106.5:c.799C>G	ENSP00000448059.1:p.Gln267Glu
NM_000277.1:c.799C>G	NP_000268.1:p.Gln267Glu
XM_011538422.1:c.799C>G	XP_011536724.1:p.Gln267Glu
NM_000277.2:c.799C>G	NP_000268.1:p.Gln267Glu
NM_001354304.1:c.799C>G	NP_001341233.1:p.Gln267Glu
NM_000277.3:c.799C>G MANE Select	NP_000268.1:p.Gln267Glu
NM_001354304.2:c.799C>G	NP_001341233.1:p.Gln267Glu