Canonical Allele Identifier: CA242509812
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs368152528

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894827C>T , CM000674.2:g.102894827C>T GRCh38
NC_000012.11:g.103288605C>T , CM000674.1:g.103288605C>T GRCh37
NC_000012.10:g.101812735C>T NCBI36
NG_008690.1:g.27776G>A
NG_008690.2:g.68584G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.260G>A MANE Select ENSP00000448059.1:p.Ser87Asn
ENST00000307000.7:c.245G>A ENSP00000303500.2:p.Ser82Asn
ENST00000546844.1:c.260G>A ENSP00000446658.1:p.Ser87Asn
ENST00000548677.2:n.347G>A
ENST00000548928.1:n.182G>A
ENST00000549111.5:n.356G>A
ENST00000550978.6:c.244G>A
ENST00000551337.5:c.260G>A ENSP00000447620.1:p.Ser87Asn
ENST00000551988.5:n.349G>A
ENST00000553106.5:c.260G>A ENSP00000448059.1:p.Ser87Asn
NM_000277.1:c.260G>A NP_000268.1:p.Ser87Asn
XM_011538422.1:c.260G>A XP_011536724.1:p.Ser87Asn
NM_000277.2:c.260G>A NP_000268.1:p.Ser87Asn
NM_001354304.1:c.260G>A NP_001341233.1:p.Ser87Asn
XM_017019370.2:c.260G>A XP_016874859.1:p.Ser87Asn
NM_000277.3:c.260G>A MANE Select NP_000268.1:p.Ser87Asn
NM_001354304.2:c.260G>A NP_001341233.1:p.Ser87Asn