Canonical Allele Identifier: CA386493020
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103234229C>G (hg19) chr12:g.102840451C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840451C>G , CM000674.2:g.102840451C>G GRCh38
NC_000012.11:g.103234229C>G , CM000674.1:g.103234229C>G GRCh37
NC_000012.10:g.101758359C>G NCBI36
NG_008690.1:g.82152G>C
NG_008690.2:g.122960G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1264G>C MANE Select ENSP00000448059.1:p.Glu422Gln
ENST00000307000.7:c.1249G>C ENSP00000303500.2:p.Glu417Gln
ENST00000551114.2:n.926G>C
ENST00000553106.5:c.1264G>C ENSP00000448059.1:p.Glu422Gln
ENST00000635477.1:c.368G>C
ENST00000635528.1:n.779G>C
NM_000277.1:c.1264G>C NP_000268.1:p.Glu422Gln
XM_011538422.1:c.1207G>C XP_011536724.1:p.Glu403Gln
NM_000277.2:c.1264G>C NP_000268.1:p.Glu422Gln
NM_001354304.1:c.1264G>C NP_001341233.1:p.Glu422Gln
NM_000277.3:c.1264G>C MANE Select NP_000268.1:p.Glu422Gln
NM_001354304.2:c.1264G>C NP_001341233.1:p.Glu422Gln
Search 100 bp 5'
Search 100 bp 3'