Canonical Allele Identifier: CA16606056

Gene: PAH

Linked Data

• ClinVar Variation Id: 379788
• ClinVar RCV Id: RCV000436688
• dbSNP Id: rs1057520732
• MyVariant Identifiers: chr12:g.103245476G>T (hg19) ; chr12:g.102851698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851698G>T , CM000674.2:g.102851698G>T	GRCh38
NC_000012.11:g.103245476G>T , CM000674.1:g.103245476G>T	GRCh37
NC_000012.10:g.101769606G>T	NCBI36
NG_008690.1:g.70905C>A
NG_008690.2:g.111713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.901C>A MANE Select	ENSP00000448059.1:p.Gln301Lys
ENST00000307000.7:c.886C>A	ENSP00000303500.2:p.Gln296Lys
ENST00000549247.6:n.660C>A
ENST00000551114.2:n.563C>A
ENST00000553106.5:c.901C>A	ENSP00000448059.1:p.Gln301Lys
ENST00000635477.1:c.62C>A
NM_000277.1:c.901C>A	NP_000268.1:p.Gln301Lys
XM_011538422.1:c.901C>A	XP_011536724.1:p.Gln301Lys
NM_000277.2:c.901C>A	NP_000268.1:p.Gln301Lys
NM_001354304.1:c.901C>A	NP_001341233.1:p.Gln301Lys
NM_000277.3:c.901C>A MANE Select	NP_000268.1:p.Gln301Lys
NM_001354304.2:c.901C>A	NP_001341233.1:p.Gln301Lys