Canonical Allele Identifier: CA386295584
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1420712008

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852891C>G , CM000674.2:g.102852891C>G GRCh38
NC_000012.11:g.103246669C>G , CM000674.1:g.103246669C>G GRCh37
NC_000012.10:g.101770799C>G NCBI36
NG_008690.1:g.69712G>C
NG_008690.2:g.110520G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.766G>C MANE Select ENSP00000448059.1:p.Gly256Arg
ENST00000307000.7:c.751G>C ENSP00000303500.2:p.Gly251Arg
ENST00000549247.6:n.525G>C
ENST00000553106.5:c.766G>C ENSP00000448059.1:p.Gly256Arg
NM_000277.1:c.766G>C NP_000268.1:p.Gly256Arg
XM_011538422.1:c.766G>C XP_011536724.1:p.Gly256Arg
NM_000277.2:c.766G>C NP_000268.1:p.Gly256Arg
NM_001354304.1:c.766G>C NP_001341233.1:p.Gly256Arg
NM_000277.3:c.766G>C MANE Select NP_000268.1:p.Gly256Arg
NM_001354304.2:c.766G>C NP_001341233.1:p.Gly256Arg