Canonical Allele Identifier: CA286507
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102804
ClinVar RCV Id: RCV000089055 RCV000576386 RCV003343638
dbSNP Id: rs62508730
ExAC: 12:103246713 C / T
gnomAD v2: 12-103246713-C-T
gnomAD v3: 12-102852935-C-T
gnomAD v4: 12-102852935-C-T
MyVariant Identifiers: chr12:g.103246713C>T (hg19) chr12:g.102852935C>T (hg38)
PubMed: PMID:8268925 PMID:8659548 PMID:9429153 PMID:9634518 PMID:10479481 PMID:10598814 PMID:12655553 PMID:12655554 PMID:15171997 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:19062537 PMID:21871829 PMID:22330942 PMID:23932990 PMID:24350308 PMID:25087612 PMID:25596310 PMID:26503515 PMID:26666653 PMID:27121329
ERepo: CA286507/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852935C>T , CM000674.2:g.102852935C>T GRCh38
NC_000012.11:g.103246713C>T , CM000674.1:g.103246713C>T GRCh37
NC_000012.10:g.101770843C>T NCBI36
NG_008690.1:g.69668G>A
NG_008690.2:g.110476G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.722G>A MANE Select ENSP00000448059.1:p.Arg241His
ENST00000307000.7:c.707G>A ENSP00000303500.2:p.Arg236His
ENST00000549247.6:n.481G>A
ENST00000553106.5:c.722G>A ENSP00000448059.1:p.Arg241His
NM_000277.1:c.722G>A NP_000268.1:p.Arg241His
XM_011538422.1:c.722G>A XP_011536724.1:p.Arg241His
NM_000277.2:c.722G>A NP_000268.1:p.Arg241His
NM_001354304.1:c.722G>A NP_001341233.1:p.Arg241His
NM_000277.3:c.722G>A MANE Select NP_000268.1:p.Arg241His
NM_001354304.2:c.722G>A NP_001341233.1:p.Arg241His
Search 100 bp 5'
Search 100 bp 3'