Canonical Allele Identifier: CA229443

Gene: PAH

Linked Data

• ClinVar Variation Id: 102599
• ClinVar RCV Id: RCV000088840 ; RCV001389300
• dbSNP Id: rs199475630
• gnomAD v4: 12-102912804-A-G
• MyVariant Identifiers: chr12:g.103306582A>G (hg19) ; chr12:g.102912804A>G (hg38)
• ERepo: CA229443/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912804A>G , CM000674.2:g.102912804A>G	GRCh38
NC_000012.11:g.103306582A>G , CM000674.1:g.103306582A>G	GRCh37
NC_000012.10:g.101830712A>G	NCBI36
NG_008690.1:g.9799T>C
NG_008690.2:g.50607T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.155T>C MANE Select	ENSP00000448059.1:p.Leu52Ser
ENST00000307000.7:c.140T>C	ENSP00000303500.2:p.Leu47Ser
ENST00000546844.1:c.155T>C	ENSP00000446658.1:p.Leu52Ser
ENST00000548677.2:n.242T>C
ENST00000548928.1:n.77T>C
ENST00000549111.5:n.251T>C
ENST00000550978.6:c.139T>C
ENST00000551337.5:c.155T>C	ENSP00000447620.1:p.Leu52Ser
ENST00000551988.5:n.244T>C
ENST00000553106.5:c.155T>C	ENSP00000448059.1:p.Leu52Ser
ENST00000635500.1:n.123T>C
NM_000277.1:c.155T>C	NP_000268.1:p.Leu52Ser
XM_011538422.1:c.155T>C	XP_011536724.1:p.Leu52Ser
NM_000277.2:c.155T>C	NP_000268.1:p.Leu52Ser
NM_001354304.1:c.155T>C	NP_001341233.1:p.Leu52Ser
XM_017019370.2:c.155T>C	XP_016874859.1:p.Leu52Ser
NM_000277.3:c.155T>C MANE Select	NP_000268.1:p.Leu52Ser
NM_001354304.2:c.155T>C	NP_001341233.1:p.Leu52Ser