Canonical Allele Identifier: CA229539
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102667
ClinVar RCV Id: RCV000088915 RCV000546355 RCV002251980 RCV003925098
dbSNP Id: rs140175796
ExAC: 12:103271247 T / A
gnomAD v2: 12-103271247-T-A
gnomAD v3: 12-102877469-T-A
gnomAD v4: 12-102877469-T-A
MyVariant Identifiers: chr12:g.103271247T>A (hg19) chr12:g.102877469T>A (hg38)
PubMed: PMID:8659548 PMID:17096675 PMID:24368688 PMID:25087612 PMID:26666653
ERepo: CA229539/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877469T>A , CM000674.2:g.102877469T>A GRCh38
NC_000012.11:g.103271247T>A , CM000674.1:g.103271247T>A GRCh37
NC_000012.10:g.101795377T>A NCBI36
NG_008690.1:g.45134A>T
NG_008690.2:g.85942A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.434A>T MANE Select ENSP00000448059.1:p.Asp145Val
ENST00000307000.7:c.419A>T ENSP00000303500.2:p.Asp140Val
ENST00000549111.5:n.530A>T
ENST00000550978.6:c.418A>T
ENST00000551988.5:n.523A>T
ENST00000553106.5:c.434A>T ENSP00000448059.1:p.Asp145Val
NM_000277.1:c.434A>T NP_000268.1:p.Asp145Val
XM_011538422.1:c.434A>T XP_011536724.1:p.Asp145Val
NM_000277.2:c.434A>T NP_000268.1:p.Asp145Val
NM_001354304.1:c.434A>T NP_001341233.1:p.Asp145Val
XM_017019370.2:c.434A>T XP_016874859.1:p.Asp145Val
NM_000277.3:c.434A>T MANE Select NP_000268.1:p.Asp145Val
NM_001354304.2:c.434A>T NP_001341233.1:p.Asp145Val
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