Canonical Allele Identifier: CA267671
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120285
ClinVar RCV Id: RCV000106366
dbSNP Id: rs281865445

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852872A>C , CM000674.2:g.102852872A>C GRCh38
NC_000012.11:g.103246650A>C , CM000674.1:g.103246650A>C GRCh37
NC_000012.10:g.101770780A>C NCBI36
NG_008690.1:g.69731T>G
NG_008690.2:g.110539T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.785T>G MANE Select ENSP00000448059.1:p.Val262Gly
ENST00000307000.7:c.770T>G ENSP00000303500.2:p.Val257Gly
ENST00000549247.6:n.544T>G
ENST00000553106.5:c.785T>G ENSP00000448059.1:p.Val262Gly
NM_000277.1:c.785T>G NP_000268.1:p.Val262Gly
XM_011538422.1:c.785T>G XP_011536724.1:p.Val262Gly
NM_000277.2:c.785T>G NP_000268.1:p.Val262Gly
NM_001354304.1:c.785T>G NP_001341233.1:p.Val262Gly
NM_000277.3:c.785T>G MANE Select NP_000268.1:p.Val262Gly
NM_001354304.2:c.785T>G NP_001341233.1:p.Val262Gly