Canonical Allele Identifier: CA229501

Gene: PAH

Linked Data

• ClinVar Variation Id: 102641
• ClinVar RCV Id: RCV000088886 ; RCV001857430
• dbSNP Id: rs62507270
• gnomAD v4: 12-102894822-G-A
• MyVariant Identifiers: chr12:g.103288600G>A (hg19) ; chr12:g.102894822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894822G>A , CM000674.2:g.102894822G>A	GRCh38
NC_000012.11:g.103288600G>A , CM000674.1:g.103288600G>A	GRCh37
NC_000012.10:g.101812730G>A	NCBI36
NG_008690.1:g.27781C>T
NG_008690.2:g.68589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.265C>T MANE Select	ENSP00000448059.1:p.Pro89Ser
ENST00000307000.7:c.250C>T	ENSP00000303500.2:p.Pro84Ser
ENST00000546844.1:c.265C>T	ENSP00000446658.1:p.Pro89Ser
ENST00000548677.2:n.352C>T
ENST00000548928.1:n.187C>T
ENST00000549111.5:n.361C>T
ENST00000550978.6:c.249C>T
ENST00000551337.5:c.265C>T	ENSP00000447620.1:p.Pro89Ser
ENST00000551988.5:n.354C>T
ENST00000553106.5:c.265C>T	ENSP00000448059.1:p.Pro89Ser
NM_000277.1:c.265C>T	NP_000268.1:p.Pro89Ser
XM_011538422.1:c.265C>T	XP_011536724.1:p.Pro89Ser
NM_000277.2:c.265C>T	NP_000268.1:p.Pro89Ser
NM_001354304.1:c.265C>T	NP_001341233.1:p.Pro89Ser
XM_017019370.2:c.265C>T	XP_016874859.1:p.Pro89Ser
NM_000277.3:c.265C>T MANE Select	NP_000268.1:p.Pro89Ser
NM_001354304.2:c.265C>T	NP_001341233.1:p.Pro89Ser