Canonical Allele Identifier: CA386294555

Gene: PAH

Linked Data

• ClinVar Variation Id: 975467
• ClinVar RCV Id: RCV001252100
• dbSNP Id: rs1875223959
• MyVariant Identifiers: chr12:g.103246614T>C (hg19) ; chr12:g.102852836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852836T>C , CM000674.2:g.102852836T>C	GRCh38
NC_000012.11:g.103246614T>C , CM000674.1:g.103246614T>C	GRCh37
NC_000012.10:g.101770744T>C	NCBI36
NG_008690.1:g.69767A>G
NG_008690.2:g.110575A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.821A>G MANE Select	ENSP00000448059.1:p.Lys274Arg
ENST00000307000.7:c.806A>G	ENSP00000303500.2:p.Lys269Arg
ENST00000549247.6:n.580A>G
ENST00000553106.5:c.821A>G	ENSP00000448059.1:p.Lys274Arg
NM_000277.1:c.821A>G	NP_000268.1:p.Lys274Arg
XM_011538422.1:c.821A>G	XP_011536724.1:p.Lys274Arg
NM_000277.2:c.821A>G	NP_000268.1:p.Lys274Arg
NM_001354304.1:c.821A>G	NP_001341233.1:p.Lys274Arg
NM_000277.3:c.821A>G MANE Select	NP_000268.1:p.Lys274Arg
NM_001354304.2:c.821A>G	NP_001341233.1:p.Lys274Arg