Canonical Allele Identifier: CA229751
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102829
ClinVar RCV Id: RCV000089086
dbSNP Id: rs62642908
MyVariant Identifiers: chr12:g.103246665C>T (hg19) chr12:g.102852887C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852887C>T , CM000674.2:g.102852887C>T GRCh38
NC_000012.11:g.103246665C>T , CM000674.1:g.103246665C>T GRCh37
NC_000012.10:g.101770795C>T NCBI36
NG_008690.1:g.69716G>A
NG_008690.2:g.110524G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.770G>A MANE Select ENSP00000448059.1:p.Gly257Asp
ENST00000307000.7:c.755G>A ENSP00000303500.2:p.Gly252Asp
ENST00000549247.6:n.529G>A
ENST00000553106.5:c.770G>A ENSP00000448059.1:p.Gly257Asp
NM_000277.1:c.770G>A NP_000268.1:p.Gly257Asp
XM_011538422.1:c.770G>A XP_011536724.1:p.Gly257Asp
NM_000277.2:c.770G>A NP_000268.1:p.Gly257Asp
NM_001354304.1:c.770G>A NP_001341233.1:p.Gly257Asp
NM_000277.3:c.770G>A MANE Select NP_000268.1:p.Gly257Asp
NM_001354304.2:c.770G>A NP_001341233.1:p.Gly257Asp
Search 100 bp 5'
Search 100 bp 3'