Canonical Allele Identifier: CA386493393
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103238122C>G (hg19) chr12:g.102844344C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844344C>G , CM000674.2:g.102844344C>G GRCh38
NC_000012.11:g.103238122C>G , CM000674.1:g.103238122C>G GRCh37
NC_000012.10:g.101762252C>G NCBI36
NG_008690.1:g.78259G>C
NG_008690.2:g.119067G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1057G>C MANE Select ENSP00000448059.1:p.Glu353Gln
ENST00000307000.7:c.1042G>C ENSP00000303500.2:p.Glu348Gln
ENST00000549247.6:n.816G>C
ENST00000551114.2:n.719G>C
ENST00000553106.5:c.1057G>C ENSP00000448059.1:p.Glu353Gln
ENST00000635477.1:c.161G>C
ENST00000635528.1:n.572G>C
NM_000277.1:c.1057G>C NP_000268.1:p.Glu353Gln
XM_011538422.1:c.1000G>C XP_011536724.1:p.Glu334Gln
NM_000277.2:c.1057G>C NP_000268.1:p.Glu353Gln
NM_001354304.1:c.1057G>C NP_001341233.1:p.Glu353Gln
NM_000277.3:c.1057G>C MANE Select NP_000268.1:p.Glu353Gln
NM_001354304.2:c.1057G>C NP_001341233.1:p.Glu353Gln
Search 100 bp 5'
Search 100 bp 3'