Canonical Allele Identifier: CA2601918751
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136648829
gnomAD v3: 12-102854915-C-T
gnomAD v4: 12-102854915-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854915C>T , CM000674.2:g.102854915C>T GRCh38
NC_000012.11:g.103248693C>T , CM000674.1:g.103248693C>T GRCh37
NC_000012.10:g.101772823C>T NCBI36
NG_008690.1:g.67688G>A
NG_008690.2:g.108496G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+221G>A MANE Select ENSP00000448059.1:n.706+221G>A
ENST00000307000.7:c.691+221G>A ENSP00000303500.2:n.691+221G>A
ENST00000549111.5:n.1023G>A
ENST00000553106.5:c.706+221G>A ENSP00000448059.1:n.706+221G>A
NM_000277.1:c.706+221G>A NP_000268.1:n.706+221G>A
XM_011538422.1:c.706+221G>A XP_011536724.1:n.706+221G>A
NM_000277.2:c.706+221G>A NP_000268.1:n.706+221G>A
NM_001354304.1:c.706+221G>A NP_001341233.1:n.706+221G>A
XM_017019370.2:c.707-114G>A XP_016874859.1:n.707-114G>A
NM_000277.3:c.706+221G>A MANE Select NP_000268.1:n.706+221G>A
NM_001354304.2:c.706+221G>A NP_001341233.1:n.706+221G>A
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