Canonical Allele Identifier: CA229505
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102644
dbSNP Id: rs62508677

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894806A>C , CM000674.2:g.102894806A>C GRCh38
NC_000012.11:g.103288584A>C , CM000674.1:g.103288584A>C GRCh37
NC_000012.10:g.101812714A>C NCBI36
NG_008690.1:g.27797T>G
NG_008690.2:g.68605T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.281T>G MANE Select ENSP00000448059.1:p.Ile94Ser
ENST00000307000.7:c.266T>G ENSP00000303500.2:p.Ile89Ser
ENST00000546844.1:c.281T>G ENSP00000446658.1:p.Ile94Ser
ENST00000548677.2:n.368T>G
ENST00000548928.1:n.203T>G
ENST00000549111.5:n.377T>G
ENST00000550978.6:c.265T>G
ENST00000551337.5:c.281T>G ENSP00000447620.1:p.Ile94Ser
ENST00000551988.5:n.370T>G
ENST00000553106.5:c.281T>G ENSP00000448059.1:p.Ile94Ser
NM_000277.1:c.281T>G NP_000268.1:p.Ile94Ser
XM_011538422.1:c.281T>G XP_011536724.1:p.Ile94Ser
NM_000277.2:c.281T>G NP_000268.1:p.Ile94Ser
NM_001354304.1:c.281T>G NP_001341233.1:p.Ile94Ser
XM_017019370.2:c.281T>G XP_016874859.1:p.Ile94Ser
NM_000277.3:c.281T>G MANE Select NP_000268.1:p.Ile94Ser
NM_001354304.2:c.281T>G NP_001341233.1:p.Ile94Ser