Canonical Allele Identifier: CA229671

Gene: PAH

Linked Data

• ClinVar Variation Id: 102770
• ClinVar RCV Id: RCV000089020 ; RCV000664975
• dbSNP Id: rs62508718
• gnomAD v4: 12-102855193-A-G
• MyVariant Identifiers: chr12:g.103248971A>G (hg19) ; chr12:g.102855193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855193A>G , CM000674.2:g.102855193A>G	GRCh38
NC_000012.11:g.103248971A>G , CM000674.1:g.103248971A>G	GRCh37
NC_000012.10:g.101773101A>G	NCBI36
NG_008690.1:g.67410T>C
NG_008690.2:g.108218T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.649T>C MANE Select	ENSP00000448059.1:p.Cys217Arg
ENST00000307000.7:c.634T>C	ENSP00000303500.2:p.Cys212Arg
ENST00000549111.5:n.745T>C
ENST00000553106.5:c.649T>C	ENSP00000448059.1:p.Cys217Arg
NM_000277.1:c.649T>C	NP_000268.1:p.Cys217Arg
XM_011538422.1:c.649T>C	XP_011536724.1:p.Cys217Arg
NM_000277.2:c.649T>C	NP_000268.1:p.Cys217Arg
NM_001354304.1:c.649T>C	NP_001341233.1:p.Cys217Arg
XM_017019370.2:c.649T>C	XP_016874859.1:p.Cys217Arg
NM_000277.3:c.649T>C MANE Select	NP_000268.1:p.Cys217Arg
NM_001354304.2:c.649T>C	NP_001341233.1:p.Cys217Arg