Canonical Allele Identifier: CA951241422
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874528355
gnomAD v3: 12-102840318-A-G
gnomAD v4: 12-102840318-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840318A>G , CM000674.2:g.102840318A>G GRCh38
NC_000012.11:g.103234096A>G , CM000674.1:g.103234096A>G GRCh37
NC_000012.10:g.101758226A>G NCBI36
NG_008690.1:g.82285T>C
NG_008690.2:g.123093T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+82T>C MANE Select ENSP00000448059.1:n.1315+82T>C
ENST00000307000.7:c.1300+82T>C ENSP00000303500.2:n.1300+82T>C
ENST00000551114.2:n.977+82T>C
ENST00000553106.5:c.1315+82T>C ENSP00000448059.1:n.1315+82T>C
ENST00000635477.1:c.419+82T>C
ENST00000635528.1:n.830+82T>C
NM_000277.1:c.1315+82T>C NP_000268.1:n.1315+82T>C
XM_011538422.1:c.1258+82T>C XP_011536724.1:n.1258+82T>C
NM_000277.2:c.1315+82T>C NP_000268.1:n.1315+82T>C
NM_001354304.1:c.1315+82T>C NP_001341233.1:n.1315+82T>C
NM_000277.3:c.1315+82T>C MANE Select NP_000268.1:n.1315+82T>C
NM_001354304.2:c.1315+82T>C NP_001341233.1:n.1315+82T>C
Search 100 bp 5'
Search 100 bp 3'