Canonical Allele Identifier: CA481331533
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2884221
ClinVar RCV Id: RCV003597834
dbSNP Id: rs5030847
gnomAD v2: 12-103246681-G-T
gnomAD v3: 12-102852903-G-T
gnomAD v4: 12-102852903-G-T
MyVariant Identifiers: chr12:g.103246681G>T (hg19) chr12:g.102852903G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852903G>T , CM000674.2:g.102852903G>T GRCh38
NC_000012.11:g.103246681G>T , CM000674.1:g.103246681G>T GRCh37
NC_000012.10:g.101770811G>T NCBI36
NG_008690.1:g.69700C>A
NG_008690.2:g.110508C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.754C>A MANE Select ENSP00000448059.1:p.Arg252=
ENST00000307000.7:c.739C>A ENSP00000303500.2:p.Arg247=
ENST00000549247.6:n.513C>A
ENST00000553106.5:c.754C>A ENSP00000448059.1:p.Arg252=
NM_000277.1:c.754C>A NP_000268.1:p.Arg252=
XM_011538422.1:c.754C>A XP_011536724.1:p.Arg252=
NM_000277.2:c.754C>A NP_000268.1:p.Arg252=
NM_001354304.1:c.754C>A NP_001341233.1:p.Arg252=
NM_000277.3:c.754C>A MANE Select NP_000268.1:p.Arg252=
NM_001354304.2:c.754C>A NP_001341233.1:p.Arg252=
Search 100 bp 5'
Search 100 bp 3'