Canonical Allele Identifier: CA229895

Gene: PAH

Linked Data

• ClinVar Variation Id: 102926
• ClinVar RCV Id: RCV000089193 ; RCV002515785
• dbSNP Id: rs199475614
• gnomAD v4: 12-102844409-A-C
• MyVariant Identifiers: chr12:g.103238187A>C (hg19) ; chr12:g.102844409A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844409A>C , CM000674.2:g.102844409A>C	GRCh38
NC_000012.11:g.103238187A>C , CM000674.1:g.103238187A>C	GRCh37
NC_000012.10:g.101762317A>C	NCBI36
NG_008690.1:g.78194T>G
NG_008690.2:g.119002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.992T>G MANE Select	ENSP00000448059.1:p.Phe331Cys
ENST00000307000.7:c.977T>G	ENSP00000303500.2:p.Phe326Cys
ENST00000549247.6:n.751T>G
ENST00000551114.2:n.654T>G
ENST00000553106.5:c.992T>G	ENSP00000448059.1:p.Phe331Cys
ENST00000635477.1:c.96T>G
ENST00000635528.1:n.507T>G
NM_000277.1:c.992T>G	NP_000268.1:p.Phe331Cys
XM_011538422.1:c.935T>G	XP_011536724.1:p.Phe312Cys
NM_000277.2:c.992T>G	NP_000268.1:p.Phe331Cys
NM_001354304.1:c.992T>G	NP_001341233.1:p.Phe331Cys
NM_000277.3:c.992T>G MANE Select	NP_000268.1:p.Phe331Cys
NM_001354304.2:c.992T>G	NP_001341233.1:p.Phe331Cys