Canonical Allele Identifier: CA229611
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102728
ClinVar RCV Id: RCV000088977
dbSNP Id: rs77958223
MyVariant Identifiers: chr12:g.103249087T>A (hg19) chr12:g.102855309T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855309T>A , CM000674.2:g.102855309T>A GRCh38
NC_000012.11:g.103249087T>A , CM000674.1:g.103249087T>A GRCh37
NC_000012.10:g.101773217T>A NCBI36
NG_008690.1:g.67294A>T
NG_008690.2:g.108102A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.533A>T MANE Select ENSP00000448059.1:p.Glu178Val
ENST00000307000.7:c.518A>T ENSP00000303500.2:p.Glu173Val
ENST00000549111.5:n.629A>T
ENST00000551988.5:n.554A>T
ENST00000553106.5:c.533A>T ENSP00000448059.1:p.Glu178Val
NM_000277.1:c.533A>T NP_000268.1:p.Glu178Val
XM_011538422.1:c.533A>T XP_011536724.1:p.Glu178Val
NM_000277.2:c.533A>T NP_000268.1:p.Glu178Val
NM_001354304.1:c.533A>T NP_001341233.1:p.Glu178Val
XM_017019370.2:c.533A>T XP_016874859.1:p.Glu178Val
NM_000277.3:c.533A>T MANE Select NP_000268.1:p.Glu178Val
NM_001354304.2:c.533A>T NP_001341233.1:p.Glu178Val
Search 100 bp 5'
Search 100 bp 3'