Canonical Allele Identifier: CA286508
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102850
dbSNP Id: rs199475692

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852845T>C , CM000674.2:g.102852845T>C GRCh38
NC_000012.11:g.103246623T>C , CM000674.1:g.103246623T>C GRCh37
NC_000012.10:g.101770753T>C NCBI36
NG_008690.1:g.69758A>G
NG_008690.2:g.110566A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.812A>G MANE Select ENSP00000448059.1:p.His271Arg
ENST00000307000.7:c.797A>G ENSP00000303500.2:p.His266Arg
ENST00000549247.6:n.571A>G
ENST00000553106.5:c.812A>G ENSP00000448059.1:p.His271Arg
NM_000277.1:c.812A>G NP_000268.1:p.His271Arg
XM_011538422.1:c.812A>G XP_011536724.1:p.His271Arg
NM_000277.2:c.812A>G NP_000268.1:p.His271Arg
NM_001354304.1:c.812A>G NP_001341233.1:p.His271Arg
NM_000277.3:c.812A>G MANE Select NP_000268.1:p.His271Arg
NM_001354304.2:c.812A>G NP_001341233.1:p.His271Arg