Canonical Allele Identifier: CA607598049
Gene: PAH HGNC NCBI
dbSNP:
1187500412
gnomAD v2:
12:103248788 C / T
gnomAD v3:
12:102855010 C / T
gnomAD v4:
chr12-102855010-C-T
Joint Max Group AF 0.00001309 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001206 (NFE)
MyVariant.info:
GRCh38 chr12:g.102855010C>T
GRCh37 chr12:g.103248788C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855010C>T , CM000674.2:g.102855010C>T GRCh38
NC_000012.11:g.103248788C>T , CM000674.1:g.103248788C>T GRCh37
NC_000012.10:g.101772918C>T NCBI36
NG_008690.1:g.67593G>A
NG_008690.2:g.108401G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+126G>A MANE Select ENSP00000448059.1:n.706+126G>A
ENST00000307000.7:c.691+126G>A ENSP00000303500.2:n.691+126G>A
ENST00000549111.5:n.928G>A
ENST00000553106.5:c.706+126G>A ENSP00000448059.1:n.706+126G>A
NM_000277.1:c.706+126G>A NP_000268.1:n.706+126G>A
XM_011538422.1:c.706+126G>A XP_011536724.1:n.706+126G>A
NM_000277.2:c.706+126G>A NP_000268.1:n.706+126G>A
NM_001354304.1:c.706+126G>A NP_001341233.1:n.706+126G>A
XM_017019370.2:c.706+126G>A XP_016874859.1:n.706+126G>A
NM_000277.3:c.706+126G>A MANE Select NP_000268.1:n.706+126G>A
NM_001354304.2:c.706+126G>A NP_001341233.1:n.706+126G>A
Search 100 bp 5'
Search 100 bp 3'