Canonical Allele Identifier: CA6748861
Gene: PAH HGNC NCBI
dbSNP:
541025637
gnomAD v2:
12:103248786 A / T
gnomAD v3:
12:102855008 A / T
gnomAD v4:
chr12-102855008-A-T
Joint Max Group AF 0.00021807 (EAS)
Genomes Max Group AF 0.00038018 (EAS)
Exomes Max Group AF 0.00013978 (EAS)
MyVariant.info:
GRCh38 chr12:g.102855008A>T
GRCh37 chr12:g.103248786A>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855008A>T , CM000674.2:g.102855008A>T GRCh38
NC_000012.11:g.103248786A>T , CM000674.1:g.103248786A>T GRCh37
NC_000012.10:g.101772916A>T NCBI36
NG_008690.1:g.67595T>A
NG_008690.2:g.108403T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+128T>A MANE Select ENSP00000448059.1:n.706+128T>A
ENST00000307000.7:c.691+128T>A ENSP00000303500.2:n.691+128T>A
ENST00000549111.5:n.930T>A
ENST00000553106.5:c.706+128T>A ENSP00000448059.1:n.706+128T>A
NM_000277.1:c.706+128T>A NP_000268.1:n.706+128T>A
XM_011538422.1:c.706+128T>A XP_011536724.1:n.706+128T>A
NM_000277.2:c.706+128T>A NP_000268.1:n.706+128T>A
NM_001354304.1:c.706+128T>A NP_001341233.1:n.706+128T>A
XM_017019370.2:c.706+128T>A XP_016874859.1:n.706+128T>A
NM_000277.3:c.706+128T>A MANE Select NP_000268.1:n.706+128T>A
NM_001354304.2:c.706+128T>A NP_001341233.1:n.706+128T>A
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