Canonical Allele Identifier: CA16020966
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 872843
ClinVar RCV Id: RCV001093524
dbSNP Id: rs62507322

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840516C>G , CM000674.2:g.102840516C>G GRCh38
NC_000012.11:g.103234294C>G , CM000674.1:g.103234294C>G GRCh37
NC_000012.10:g.101758424C>G NCBI36
NG_008690.1:g.82087G>C
NG_008690.2:g.122895G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-1G>C MANE Select ENSP00000448059.1:n.1200-1G>C
ENST00000307000.7:c.1185-1G>C ENSP00000303500.2:n.1185-1G>C
ENST00000549247.6:n.959-1G>C
ENST00000551114.2:n.862-1G>C
ENST00000553106.5:c.1200-1G>C ENSP00000448059.1:n.1200-1G>C
ENST00000635477.1:c.304-1G>C
ENST00000635528.1:n.715-1G>C
NM_000277.1:c.1200-1G>C NP_000268.1:n.1200-1G>C
XM_011538422.1:c.1143-1G>C XP_011536724.1:n.1143-1G>C
NM_000277.2:c.1200-1G>C NP_000268.1:n.1200-1G>C
NM_001354304.1:c.1200-1G>C NP_001341233.1:n.1200-1G>C
NM_000277.3:c.1200-1G>C MANE Select NP_000268.1:n.1200-1G>C
NM_001354304.2:c.1200-1G>C NP_001341233.1:n.1200-1G>C