Canonical Allele Identifier: CA229513
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102649
dbSNP Id: rs1801145

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917101G>C , CM000674.2:g.102917101G>C GRCh38
NC_000012.11:g.103310879G>C , CM000674.1:g.103310879G>C GRCh37
NC_000012.10:g.101835009G>C NCBI36
NG_008690.1:g.5502C>G
NG_008690.2:g.46310C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.30C>G MANE Select ENSP00000448059.1:p.Gly10=
ENST00000307000.7:c.-118C>G ENSP00000303500.2:n.-118C>G
ENST00000546844.1:c.30C>G ENSP00000446658.1:p.Gly10=
ENST00000547319.1:n.341C>G
ENST00000549111.5:n.126C>G
ENST00000550978.6:c.14C>G
ENST00000551337.5:c.30C>G ENSP00000447620.1:p.Gly10=
ENST00000551988.5:n.119C>G
ENST00000553106.5:c.30C>G ENSP00000448059.1:p.Gly10=
ENST00000635500.1:n.29-4203C>G
NM_000277.1:c.30C>G NP_000268.1:p.Gly10=
XM_011538422.1:c.30C>G XP_011536724.1:p.Gly10=
NM_000277.2:c.30C>G NP_000268.1:p.Gly10=
NM_001354304.1:c.30C>G NP_001341233.1:p.Gly10=
XM_017019370.2:c.30C>G XP_016874859.1:p.Gly10=
NM_000277.3:c.30C>G MANE Select NP_000268.1:p.Gly10=
NM_001354304.2:c.30C>G NP_001341233.1:p.Gly10=