Canonical Allele Identifier: CA2059448381
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592953986
gnomAD v4: 12-102854665-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854665T>G , CM000674.2:g.102854665T>G GRCh38
NC_000012.11:g.103248443T>G , CM000674.1:g.103248443T>G GRCh37
NC_000012.10:g.101772573T>G NCBI36
NG_008690.1:g.67938A>C
NG_008690.2:g.108746A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+471A>C MANE Select ENSP00000448059.1:n.706+471A>C
ENST00000307000.7:c.691+471A>C ENSP00000303500.2:n.691+471A>C
ENST00000553106.5:c.706+471A>C ENSP00000448059.1:n.706+471A>C
NM_000277.1:c.706+471A>C NP_000268.1:n.706+471A>C
XM_011538422.1:c.706+471A>C XP_011536724.1:n.706+471A>C
NM_000277.2:c.706+471A>C NP_000268.1:n.706+471A>C
NM_001354304.1:c.706+471A>C NP_001341233.1:n.706+471A>C
XM_017019370.2:c.*120A>C XP_016874859.1:n.*120A>C
NM_000277.3:c.706+471A>C MANE Select NP_000268.1:n.706+471A>C
NM_001354304.2:c.706+471A>C NP_001341233.1:n.706+471A>C
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