Canonical Allele Identifier: CA2580085707
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1954557
ClinVar RCV Id: RCV002705703
gnomAD v4: 12-102855124-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855124A>C , CM000674.2:g.102855124A>C GRCh38
NC_000012.11:g.103248902A>C , CM000674.1:g.103248902A>C GRCh37
NC_000012.10:g.101773032A>C NCBI36
NG_008690.1:g.67479T>G
NG_008690.2:g.108287T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+12T>G MANE Select ENSP00000448059.1:n.706+12T>G
ENST00000307000.7:c.691+12T>G ENSP00000303500.2:n.691+12T>G
ENST00000549111.5:n.814T>G
ENST00000553106.5:c.706+12T>G ENSP00000448059.1:n.706+12T>G
NM_000277.1:c.706+12T>G NP_000268.1:n.706+12T>G
XM_011538422.1:c.706+12T>G XP_011536724.1:n.706+12T>G
NM_000277.2:c.706+12T>G NP_000268.1:n.706+12T>G
NM_001354304.1:c.706+12T>G NP_001341233.1:n.706+12T>G
XM_017019370.2:c.706+12T>G XP_016874859.1:n.706+12T>G
NM_000277.3:c.706+12T>G MANE Select NP_000268.1:n.706+12T>G
NM_001354304.2:c.706+12T>G NP_001341233.1:n.706+12T>G
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