Canonical Allele Identifier: CA229527
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102661
dbSNP Id: rs199475623

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877517T>C , CM000674.2:g.102877517T>C GRCh38
NC_000012.11:g.103271295T>C , CM000674.1:g.103271295T>C GRCh37
NC_000012.10:g.101795425T>C NCBI36
NG_008690.1:g.45086A>G
NG_008690.2:g.85894A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.386A>G MANE Select ENSP00000448059.1:p.Asp129Gly
ENST00000307000.7:c.371A>G ENSP00000303500.2:p.Asp124Gly
ENST00000549111.5:n.482A>G
ENST00000550978.6:c.370A>G
ENST00000551337.5:c.386A>G ENSP00000447620.1:p.Asp129Gly
ENST00000551988.5:n.475A>G
ENST00000553106.5:c.386A>G ENSP00000448059.1:p.Asp129Gly
NM_000277.1:c.386A>G NP_000268.1:p.Asp129Gly
XM_011538422.1:c.386A>G XP_011536724.1:p.Asp129Gly
NM_000277.2:c.386A>G NP_000268.1:p.Asp129Gly
NM_001354304.1:c.386A>G NP_001341233.1:p.Asp129Gly
XM_017019370.2:c.386A>G XP_016874859.1:p.Asp129Gly
NM_000277.3:c.386A>G MANE Select NP_000268.1:p.Asp129Gly
NM_001354304.2:c.386A>G NP_001341233.1:p.Asp129Gly