Canonical Allele Identifier: CA229471
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102618
dbSNP Id: rs199475634

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894904G>C , CM000674.2:g.102894904G>C GRCh38
NC_000012.11:g.103288682G>C , CM000674.1:g.103288682G>C GRCh37
NC_000012.10:g.101812812G>C NCBI36
NG_008690.1:g.27699C>G
NG_008690.2:g.68507C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.183C>G MANE Select ENSP00000448059.1:p.Asn61Lys
ENST00000307000.7:c.168C>G ENSP00000303500.2:p.Asn56Lys
ENST00000546844.1:c.183C>G ENSP00000446658.1:p.Asn61Lys
ENST00000548677.2:n.270C>G
ENST00000548928.1:n.105C>G
ENST00000549111.5:n.279C>G
ENST00000550978.6:c.167C>G
ENST00000551337.5:c.183C>G ENSP00000447620.1:p.Asn61Lys
ENST00000551988.5:n.272C>G
ENST00000553106.5:c.183C>G ENSP00000448059.1:p.Asn61Lys
ENST00000635500.1:n.151C>G
NM_000277.1:c.183C>G NP_000268.1:p.Asn61Lys
XM_011538422.1:c.183C>G XP_011536724.1:p.Asn61Lys
NM_000277.2:c.183C>G NP_000268.1:p.Asn61Lys
NM_001354304.1:c.183C>G NP_001341233.1:p.Asn61Lys
XM_017019370.2:c.183C>G XP_016874859.1:p.Asn61Lys
NM_000277.3:c.183C>G MANE Select NP_000268.1:p.Asn61Lys
NM_001354304.2:c.183C>G NP_001341233.1:p.Asn61Lys