Canonical Allele Identifier: CA242493312
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1943030
ClinVar RCV Id: RCV002670756
dbSNP Id: rs199475571

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877532G>T , CM000674.2:g.102877532G>T GRCh38
NC_000012.11:g.103271310G>T , CM000674.1:g.103271310G>T GRCh37
NC_000012.10:g.101795440G>T NCBI36
NG_008690.1:g.45071C>A
NG_008690.2:g.85879C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.371C>A MANE Select ENSP00000448059.1:p.Thr124Asn
ENST00000307000.7:c.356C>A ENSP00000303500.2:p.Thr119Asn
ENST00000549111.5:n.467C>A
ENST00000550978.6:c.355C>A
ENST00000551337.5:c.371C>A ENSP00000447620.1:p.Thr124Asn
ENST00000551988.5:n.460C>A
ENST00000553106.5:c.371C>A ENSP00000448059.1:p.Thr124Asn
NM_000277.1:c.371C>A NP_000268.1:p.Thr124Asn
XM_011538422.1:c.371C>A XP_011536724.1:p.Thr124Asn
NM_000277.2:c.371C>A NP_000268.1:p.Thr124Asn
NM_001354304.1:c.371C>A NP_001341233.1:p.Thr124Asn
XM_017019370.2:c.371C>A XP_016874859.1:p.Thr124Asn
NM_000277.3:c.371C>A MANE Select NP_000268.1:p.Thr124Asn
NM_001354304.2:c.371C>A NP_001341233.1:p.Thr124Asn