Canonical Allele Identifier: CA229576

Gene: PAH

Linked Data

• ClinVar Variation Id: 102698
• ClinVar RCV Id: RCV000088946 ; RCV002251981 ; RCV000535090 ; RCV003114254
• dbSNP Id: rs199475647
• ExAC: 12:103260393 T / C
• gnomAD v2: 12-103260393-T-C
• gnomAD v3: 12-102866615-T-C
• gnomAD v4: 12-102866615-T-C
• MyVariant Identifiers: chr12:g.103260393T>C (hg19) ; chr12:g.102866615T>C (hg38)
• ERepo: CA229576/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866615T>C , CM000674.2:g.102866615T>C	GRCh38
NC_000012.11:g.103260393T>C , CM000674.1:g.103260393T>C	GRCh37
NC_000012.10:g.101784523T>C	NCBI36
NG_008690.1:g.55988A>G
NG_008690.2:g.96796A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.490A>G MANE Select	ENSP00000448059.1:p.Ile164Val
ENST00000307000.7:c.475A>G	ENSP00000303500.2:p.Ile159Val
ENST00000549111.5:n.586A>G
ENST00000551988.5:n.530+10847A>G
ENST00000553106.5:c.490A>G	ENSP00000448059.1:p.Ile164Val
NM_000277.1:c.490A>G	NP_000268.1:p.Ile164Val
XM_011538422.1:c.490A>G	XP_011536724.1:p.Ile164Val
NM_000277.2:c.490A>G	NP_000268.1:p.Ile164Val
NM_001354304.1:c.490A>G	NP_001341233.1:p.Ile164Val
XM_017019370.2:c.490A>G	XP_016874859.1:p.Ile164Val
NM_000277.3:c.490A>G MANE Select	NP_000268.1:p.Ile164Val
NM_001354304.2:c.490A>G	NP_001341233.1:p.Ile164Val