Canonical Allele Identifier: CA2620509135
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102846789-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846789T>G , CM000674.2:g.102846789T>G GRCh38
NC_000012.11:g.103240567T>G , CM000674.1:g.103240567T>G GRCh37
NC_000012.10:g.101764697T>G NCBI36
NG_008690.1:g.75814A>C
NG_008690.2:g.116622A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+106A>C MANE Select ENSP00000448059.1:n.969+106A>C
ENST00000307000.7:c.954+106A>C ENSP00000303500.2:n.954+106A>C
ENST00000549247.6:n.728+106A>C
ENST00000551114.2:n.631+106A>C
ENST00000553106.5:c.969+106A>C ENSP00000448059.1:n.969+106A>C
ENST00000635477.1:c.74-2358A>C
ENST00000635528.1:n.484+106A>C
NM_000277.1:c.969+106A>C NP_000268.1:n.969+106A>C
XM_011538422.1:c.913-2358A>C XP_011536724.1:n.913-2358A>C
NM_000277.2:c.969+106A>C NP_000268.1:n.969+106A>C
NM_001354304.1:c.969+106A>C NP_001341233.1:n.969+106A>C
NM_000277.3:c.969+106A>C MANE Select NP_000268.1:n.969+106A>C
NM_001354304.2:c.969+106A>C NP_001341233.1:n.969+106A>C
Search 100 bp 5'
Search 100 bp 3'