Canonical Allele Identifier: CA16020915

Gene: PAH

Linked Data

• ClinVar Variation Id: 371278
• ClinVar RCV Id: RCV000410352
• dbSNP Id: rs199475614
• gnomAD v2: 12-103238187-A-G
• gnomAD v4: 12-102844409-A-G
• MyVariant Identifiers: chr12:g.103238187A>G (hg19) ; chr12:g.102844409A>G (hg38)
• PubMed: PMID:23764561 ; PMID:24190797 ; PMID:25894915 ; PMID:26322415 ; PMID:26503515

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.992T>C MANE Select	ENSP00000448059.1:p.Phe331Ser
ENST00000307000.7:c.977T>C	ENSP00000303500.2:p.Phe326Ser
ENST00000549247.6:n.751T>C
ENST00000551114.2:n.654T>C
ENST00000553106.5:c.992T>C	ENSP00000448059.1:p.Phe331Ser
ENST00000635477.1:c.96T>C
ENST00000635528.1:n.507T>C
NM_000277.1:c.992T>C	NP_000268.1:p.Phe331Ser
XM_011538422.1:c.935T>C	XP_011536724.1:p.Phe312Ser
NM_000277.2:c.992T>C	NP_000268.1:p.Phe331Ser
NM_001354304.1:c.992T>C	NP_001341233.1:p.Phe331Ser
NM_000277.3:c.992T>C MANE Select	NP_000268.1:p.Phe331Ser
NM_001354304.2:c.992T>C	NP_001341233.1:p.Phe331Ser