Canonical Allele Identifier: CA2620509203
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102846814-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846814A>G , CM000674.2:g.102846814A>G GRCh38
NC_000012.11:g.103240592A>G , CM000674.1:g.103240592A>G GRCh37
NC_000012.10:g.101764722A>G NCBI36
NG_008690.1:g.75789T>C
NG_008690.2:g.116597T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+81T>C MANE Select ENSP00000448059.1:n.969+81T>C
ENST00000307000.7:c.954+81T>C ENSP00000303500.2:n.954+81T>C
ENST00000549247.6:n.728+81T>C
ENST00000551114.2:n.631+81T>C
ENST00000553106.5:c.969+81T>C ENSP00000448059.1:n.969+81T>C
ENST00000635477.1:c.74-2383T>C
ENST00000635528.1:n.484+81T>C
NM_000277.1:c.969+81T>C NP_000268.1:n.969+81T>C
XM_011538422.1:c.913-2383T>C XP_011536724.1:n.913-2383T>C
NM_000277.2:c.969+81T>C NP_000268.1:n.969+81T>C
NM_001354304.1:c.969+81T>C NP_001341233.1:n.969+81T>C
NM_000277.3:c.969+81T>C MANE Select NP_000268.1:n.969+81T>C
NM_001354304.2:c.969+81T>C NP_001341233.1:n.969+81T>C
Search 100 bp 5'
Search 100 bp 3'