Canonical Allele Identifier: CA229556
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102684
ClinVar RCV Id: RCV000088932 RCV001093515
dbSNP Id: rs199475587
MyVariant Identifiers: chr12:g.103260423A>T (hg19) chr12:g.102866645A>T (hg38)
ERepo: CA229556/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866645A>T , CM000674.2:g.102866645A>T GRCh38
NC_000012.11:g.103260423A>T , CM000674.1:g.103260423A>T GRCh37
NC_000012.10:g.101784553A>T NCBI36
NG_008690.1:g.55958T>A
NG_008690.2:g.96766T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.460T>A MANE Select ENSP00000448059.1:p.Tyr154Asn
ENST00000307000.7:c.445T>A ENSP00000303500.2:p.Tyr149Asn
ENST00000549111.5:n.556T>A
ENST00000551988.5:n.530+10817T>A
ENST00000553106.5:c.460T>A ENSP00000448059.1:p.Tyr154Asn
NM_000277.1:c.460T>A NP_000268.1:p.Tyr154Asn
XM_011538422.1:c.460T>A XP_011536724.1:p.Tyr154Asn
NM_000277.2:c.460T>A NP_000268.1:p.Tyr154Asn
NM_001354304.1:c.460T>A NP_001341233.1:p.Tyr154Asn
XM_017019370.2:c.460T>A XP_016874859.1:p.Tyr154Asn
NM_000277.3:c.460T>A MANE Select NP_000268.1:p.Tyr154Asn
NM_001354304.2:c.460T>A NP_001341233.1:p.Tyr154Asn
Search 100 bp 5'
Search 100 bp 3'