Canonical Allele Identifier: CA481333135

Gene: PAH

Linked Data

• ClinVar Variation Id: 1136828
• ClinVar RCV Id: RCV001472618
• dbSNP Id: rs2136701489
• MyVariant Identifiers: chr12:g.103288523C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894745C>T , CM000674.2:g.102894745C>T	GRCh38
NC_000012.11:g.103288523C>T , CM000674.1:g.103288523C>T	GRCh37
NC_000012.10:g.101812653C>T	NCBI36
NG_008690.1:g.27858G>A
NG_008690.2:g.68666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.342G>A MANE Select	ENSP00000448059.1:p.Lys114=
ENST00000307000.7:c.327G>A	ENSP00000303500.2:p.Lys109=
ENST00000546844.1:c.342G>A	ENSP00000446658.1:p.Lys114=
ENST00000548928.1:n.264G>A
ENST00000549111.5:n.438G>A
ENST00000550978.6:c.326G>A
ENST00000551337.5:c.342G>A	ENSP00000447620.1:p.Lys114=
ENST00000551988.5:n.431G>A
ENST00000553106.5:c.342G>A	ENSP00000448059.1:p.Lys114=
NM_000277.1:c.342G>A	NP_000268.1:p.Lys114=
XM_011538422.1:c.342G>A	XP_011536724.1:p.Lys114=
NM_000277.2:c.342G>A	NP_000268.1:p.Lys114=
NM_001354304.1:c.342G>A	NP_001341233.1:p.Lys114=
XM_017019370.2:c.342G>A	XP_016874859.1:p.Lys114=
NM_000277.3:c.342G>A MANE Select	NP_000268.1:p.Lys114=
NM_001354304.2:c.342G>A	NP_001341233.1:p.Lys114=