Canonical Allele Identifier: CA481330621
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 731884
ClinVar RCV Id: RCV000906917
dbSNP Id: rs1448283369

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846886G>C , CM000674.2:g.102846886G>C GRCh38
NC_000012.11:g.103240664G>C , CM000674.1:g.103240664G>C GRCh37
NC_000012.10:g.101764794G>C NCBI36
NG_008690.1:g.75717C>G
NG_008690.2:g.116525C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+9C>G MANE Select ENSP00000448059.1:n.969+9C>G
ENST00000307000.7:c.954+9C>G ENSP00000303500.2:n.954+9C>G
ENST00000549247.6:n.728+9C>G
ENST00000551114.2:n.631+9C>G
ENST00000553106.5:c.969+9C>G ENSP00000448059.1:n.969+9C>G
ENST00000635477.1:c.74-2455C>G
ENST00000635528.1:n.484+9C>G
NM_000277.1:c.969+9C>G NP_000268.1:n.969+9C>G
XM_011538422.1:c.913-2455C>G XP_011536724.1:n.913-2455C>G
NM_000277.2:c.969+9C>G NP_000268.1:n.969+9C>G
NM_001354304.1:c.969+9C>G NP_001341233.1:n.969+9C>G
NM_000277.3:c.969+9C>G MANE Select NP_000268.1:n.969+9C>G
NM_001354304.2:c.969+9C>G NP_001341233.1:n.969+9C>G