Canonical Allele Identifier: CA386299454

Gene: PAH

Linked Data

• ClinVar Variation Id: 2677436
• ClinVar RCV Id: RCV003471653
• gnomAD v4: 12-102866599-C-A
• MyVariant Identifiers: chr12:g.103260377C>A (hg19) ; chr12:g.102866599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866599C>A , CM000674.2:g.102866599C>A	GRCh38
NC_000012.11:g.103260377C>A , CM000674.1:g.103260377C>A	GRCh37
NC_000012.10:g.101784507C>A	NCBI36
NG_008690.1:g.56004G>T
NG_008690.2:g.96812G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.506G>T MANE Select	ENSP00000448059.1:p.Arg169Leu
ENST00000307000.7:c.491G>T	ENSP00000303500.2:p.Arg164Leu
ENST00000549111.5:n.602G>T
ENST00000551988.5:n.530+10863G>T
ENST00000553106.5:c.506G>T	ENSP00000448059.1:p.Arg169Leu
NM_000277.1:c.506G>T	NP_000268.1:p.Arg169Leu
XM_011538422.1:c.506G>T	XP_011536724.1:p.Arg169Leu
NM_000277.2:c.506G>T	NP_000268.1:p.Arg169Leu
NM_001354304.1:c.506G>T	NP_001341233.1:p.Arg169Leu
XM_017019370.2:c.506G>T	XP_016874859.1:p.Arg169Leu
NM_000277.3:c.506G>T MANE Select	NP_000268.1:p.Arg169Leu
NM_001354304.2:c.506G>T	NP_001341233.1:p.Arg169Leu