Canonical Allele Identifier: CA229763
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102836
ClinVar RCV Id: RCV000089095 RCV000810805
dbSNP Id: rs62507335
gnomAD v4: 12-102852863-C-T
MyVariant Identifiers: chr12:g.103246641C>T (hg19) chr12:g.102852863C>T (hg38)
ERepo: CA229763/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852863C>T , CM000674.2:g.102852863C>T GRCh38
NC_000012.11:g.103246641C>T , CM000674.1:g.103246641C>T GRCh37
NC_000012.10:g.101770771C>T NCBI36
NG_008690.1:g.69740G>A
NG_008690.2:g.110548G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.794G>A MANE Select ENSP00000448059.1:p.Cys265Tyr
ENST00000307000.7:c.779G>A ENSP00000303500.2:p.Cys260Tyr
ENST00000549247.6:n.553G>A
ENST00000553106.5:c.794G>A ENSP00000448059.1:p.Cys265Tyr
NM_000277.1:c.794G>A NP_000268.1:p.Cys265Tyr
XM_011538422.1:c.794G>A XP_011536724.1:p.Cys265Tyr
NM_000277.2:c.794G>A NP_000268.1:p.Cys265Tyr
NM_001354304.1:c.794G>A NP_001341233.1:p.Cys265Tyr
NM_000277.3:c.794G>A MANE Select NP_000268.1:p.Cys265Tyr
NM_001354304.2:c.794G>A NP_001341233.1:p.Cys265Tyr
Search 100 bp 5'
Search 100 bp 3'