Canonical Allele Identifier: CA2601918722
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136648497
gnomAD v3: 12-102854623-T-C
gnomAD v4: 12-102854623-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854623T>C , CM000674.2:g.102854623T>C GRCh38
NC_000012.11:g.103248401T>C , CM000674.1:g.103248401T>C GRCh37
NC_000012.10:g.101772531T>C NCBI36
NG_008690.1:g.67980A>G
NG_008690.2:g.108788A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+513A>G MANE Select ENSP00000448059.1:n.706+513A>G
ENST00000307000.7:c.691+513A>G ENSP00000303500.2:n.691+513A>G
ENST00000553106.5:c.706+513A>G ENSP00000448059.1:n.706+513A>G
NM_000277.1:c.706+513A>G NP_000268.1:n.706+513A>G
XM_011538422.1:c.706+513A>G XP_011536724.1:n.706+513A>G
NM_000277.2:c.706+513A>G NP_000268.1:n.706+513A>G
NM_001354304.1:c.706+513A>G NP_001341233.1:n.706+513A>G
XM_017019370.2:c.*162A>G XP_016874859.1:n.*162A>G
NM_000277.3:c.706+513A>G MANE Select NP_000268.1:n.706+513A>G
NM_001354304.2:c.706+513A>G NP_001341233.1:n.706+513A>G
Search 100 bp 5'
Search 100 bp 3'