Canonical Allele Identifier: CA229724
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102810
dbSNP Id: rs62508694

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852924C>G , CM000674.2:g.102852924C>G GRCh38
NC_000012.11:g.103246702C>G , CM000674.1:g.103246702C>G GRCh37
NC_000012.10:g.101770832C>G NCBI36
NG_008690.1:g.69679G>C
NG_008690.2:g.110487G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.733G>C MANE Select ENSP00000448059.1:p.Val245Leu
ENST00000307000.7:c.718G>C ENSP00000303500.2:p.Val240Leu
ENST00000549247.6:n.492G>C
ENST00000553106.5:c.733G>C ENSP00000448059.1:p.Val245Leu
NM_000277.1:c.733G>C NP_000268.1:p.Val245Leu
XM_011538422.1:c.733G>C XP_011536724.1:p.Val245Leu
NM_000277.2:c.733G>C NP_000268.1:p.Val245Leu
NM_001354304.1:c.733G>C NP_001341233.1:p.Val245Leu
NM_000277.3:c.733G>C MANE Select NP_000268.1:p.Val245Leu
NM_001354304.2:c.733G>C NP_001341233.1:p.Val245Leu