Canonical Allele Identifier: CA229429

Gene: PAH

Linked Data

• ClinVar Variation Id: 102588
• ClinVar RCV Id: RCV000088827 ; RCV000169029
• dbSNP Id: rs1799970
• gnomAD v4: 12-102840398-A-G
• MyVariant Identifiers: chr12:g.103234176A>G (hg19) ; chr12:g.102840398A>G (hg38)
• ERepo: CA229429/MONDO:0009861/006
• PubMed: PMID:9452062 ; PMID:9521426

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840398A>G , CM000674.2:g.102840398A>G	GRCh38
NC_000012.11:g.103234176A>G , CM000674.1:g.103234176A>G	GRCh37
NC_000012.10:g.101758306A>G	NCBI36
NG_008690.1:g.82205T>C
NG_008690.2:g.123013T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1315+2T>C MANE Select	ENSP00000448059.1:n.1315+2T>C
ENST00000307000.7:c.1300+2T>C	ENSP00000303500.2:n.1300+2T>C
ENST00000551114.2:n.977+2T>C
ENST00000553106.5:c.1315+2T>C	ENSP00000448059.1:n.1315+2T>C
ENST00000635477.1:c.419+2T>C
ENST00000635528.1:n.830+2T>C
NM_000277.1:c.1315+2T>C	NP_000268.1:n.1315+2T>C
XM_011538422.1:c.1258+2T>C	XP_011536724.1:n.1258+2T>C
NM_000277.2:c.1315+2T>C	NP_000268.1:n.1315+2T>C
NM_001354304.1:c.1315+2T>C	NP_001341233.1:n.1315+2T>C
NM_000277.3:c.1315+2T>C MANE Select	NP_000268.1:n.1315+2T>C
NM_001354304.2:c.1315+2T>C	NP_001341233.1:n.1315+2T>C