Canonical Allele Identifier: CA251542

Gene: PAH

Linked Data

• ClinVar Variation Id: 615
• ClinVar RCV Id: RCV000000646 ; RCV000078499
• dbSNP Id: rs62508646
• ExAC: 12:103238134 A / G
• gnomAD v2: 12-103238134-A-G
• gnomAD v3: 12-102844356-A-G
• gnomAD v4: 12-102844356-A-G
• MyVariant Identifiers: chr12:g.103238134A>G (hg19) ; chr12:g.102844356A>G (hg38)
• PubMed: PMID:1301193 ; PMID:2063869 ; PMID:7860062 ; PMID:8095248 ; PMID:8830172 ; PMID:17935162 ; PMID:21953985 ; PMID:22513348 ; PMID:22975760 ; PMID:23500595 ; PMID:24941924 ; PMID:27121329

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844356A>G , CM000674.2:g.102844356A>G	GRCh38
NC_000012.11:g.103238134A>G , CM000674.1:g.103238134A>G	GRCh37
NC_000012.10:g.101762264A>G	NCBI36
NG_008690.1:g.78247T>C
NG_008690.2:g.119055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1045T>C MANE Select	ENSP00000448059.1:p.Ser349Pro
ENST00000307000.7:c.1030T>C	ENSP00000303500.2:p.Ser344Pro
ENST00000549247.6:n.804T>C
ENST00000551114.2:n.707T>C
ENST00000553106.5:c.1045T>C	ENSP00000448059.1:p.Ser349Pro
ENST00000635477.1:c.149T>C
ENST00000635528.1:n.560T>C
NM_000277.1:c.1045T>C	NP_000268.1:p.Ser349Pro
XM_011538422.1:c.988T>C	XP_011536724.1:p.Ser330Pro
NM_000277.2:c.1045T>C	NP_000268.1:p.Ser349Pro
NM_001354304.1:c.1045T>C	NP_001341233.1:p.Ser349Pro
NM_000277.3:c.1045T>C MANE Select	NP_000268.1:p.Ser349Pro
NM_001354304.2:c.1045T>C	NP_001341233.1:p.Ser349Pro