Canonical Allele Identifier: CA951231866
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874845214
gnomAD v3: 12-102846410-T-C
gnomAD v4: 12-102846410-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846410T>C , CM000674.2:g.102846410T>C GRCh38
NC_000012.11:g.103240188T>C , CM000674.1:g.103240188T>C GRCh37
NC_000012.10:g.101764318T>C NCBI36
NG_008690.1:g.76193A>G
NG_008690.2:g.117001A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+485A>G MANE Select ENSP00000448059.1:n.969+485A>G
ENST00000307000.7:c.954+485A>G ENSP00000303500.2:n.954+485A>G
ENST00000549247.6:n.728+485A>G
ENST00000551114.2:n.631+485A>G
ENST00000553106.5:c.969+485A>G ENSP00000448059.1:n.969+485A>G
ENST00000635477.1:c.74-1979A>G
ENST00000635528.1:n.484+485A>G
NM_000277.1:c.969+485A>G NP_000268.1:n.969+485A>G
XM_011538422.1:c.913-1979A>G XP_011536724.1:n.913-1979A>G
NM_000277.2:c.969+485A>G NP_000268.1:n.969+485A>G
NM_001354304.1:c.969+485A>G NP_001341233.1:n.969+485A>G
NM_000277.3:c.969+485A>G MANE Select NP_000268.1:n.969+485A>G
NM_001354304.2:c.969+485A>G NP_001341233.1:n.969+485A>G
Search 100 bp 5'
Search 100 bp 3'