Canonical Allele Identifier: CA386493127
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237427A>T (hg19) chr12:g.102843649A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843649A>T , CM000674.2:g.102843649A>T GRCh38
NC_000012.11:g.103237427A>T , CM000674.1:g.103237427A>T GRCh37
NC_000012.10:g.101761557A>T NCBI36
NG_008690.1:g.78954T>A
NG_008690.2:g.119762T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1196T>A MANE Select ENSP00000448059.1:p.Val399Glu
ENST00000307000.7:c.1181T>A ENSP00000303500.2:p.Val394Glu
ENST00000549247.6:n.955T>A
ENST00000551114.2:n.858T>A
ENST00000553106.5:c.1196T>A ENSP00000448059.1:p.Val399Glu
ENST00000635477.1:c.300T>A
ENST00000635528.1:n.711T>A
NM_000277.1:c.1196T>A NP_000268.1:p.Val399Glu
XM_011538422.1:c.1139T>A XP_011536724.1:p.Val380Glu
NM_000277.2:c.1196T>A NP_000268.1:p.Val399Glu
NM_001354304.1:c.1196T>A NP_001341233.1:p.Val399Glu
NM_000277.3:c.1196T>A MANE Select NP_000268.1:p.Val399Glu
NM_001354304.2:c.1196T>A NP_001341233.1:p.Val399Glu
Search 100 bp 5'
Search 100 bp 3'