Canonical Allele Identifier: CA229775

Gene: PAH

Linked Data

• ClinVar Variation Id: 102842
• ClinVar RCV Id: RCV000089101 ; RCV000281383
• dbSNP Id: rs62508692
• ExAC: 12:103246630 T / G
• gnomAD v2: 12-103246630-T-G
• gnomAD v3: 12-102852852-T-G
• gnomAD v4: 12-102852852-T-G
• MyVariant Identifiers: chr12:g.103246630T>G (hg19) ; chr12:g.102852852T>G (hg38)
• PubMed: PMID:23891399
• ERepo: CA229775/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852852T>G , CM000674.2:g.102852852T>G	GRCh38
NC_000012.11:g.103246630T>G , CM000674.1:g.103246630T>G	GRCh37
NC_000012.10:g.101770760T>G	NCBI36
NG_008690.1:g.69751A>C
NG_008690.2:g.110559A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.805A>C MANE Select	ENSP00000448059.1:p.Ile269Leu
ENST00000307000.7:c.790A>C	ENSP00000303500.2:p.Ile264Leu
ENST00000549247.6:n.564A>C
ENST00000553106.5:c.805A>C	ENSP00000448059.1:p.Ile269Leu
NM_000277.1:c.805A>C	NP_000268.1:p.Ile269Leu
XM_011538422.1:c.805A>C	XP_011536724.1:p.Ile269Leu
NM_000277.2:c.805A>C	NP_000268.1:p.Ile269Leu
NM_001354304.1:c.805A>C	NP_001341233.1:p.Ile269Leu
NM_000277.3:c.805A>C MANE Select	NP_000268.1:p.Ile269Leu
NM_001354304.2:c.805A>C	NP_001341233.1:p.Ile269Leu