Canonical Allele Identifier: CA2059473130
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1878247308
gnomAD v4: 12-102912723-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912723T>A , CM000674.2:g.102912723T>A GRCh38
NC_000012.11:g.103306501T>A , CM000674.1:g.103306501T>A GRCh37
NC_000012.10:g.101830631T>A NCBI36
NG_008690.1:g.9880A>T
NG_008690.2:g.50688A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+68A>T MANE Select ENSP00000448059.1:n.168+68A>T
ENST00000307000.7:c.153+68A>T ENSP00000303500.2:n.153+68A>T
ENST00000546844.1:c.168+68A>T ENSP00000446658.1:n.168+68A>T
ENST00000548677.2:n.255+68A>T
ENST00000548928.1:n.90+68A>T
ENST00000549111.5:n.264+68A>T
ENST00000550978.6:c.152+68A>T
ENST00000551337.5:c.168+68A>T ENSP00000447620.1:n.168+68A>T
ENST00000551988.5:n.257+68A>T
ENST00000553106.5:c.168+68A>T ENSP00000448059.1:n.168+68A>T
ENST00000635500.1:n.136+68A>T
NM_000277.1:c.168+68A>T NP_000268.1:n.168+68A>T
XM_011538422.1:c.168+68A>T XP_011536724.1:n.168+68A>T
NM_000277.2:c.168+68A>T NP_000268.1:n.168+68A>T
NM_001354304.1:c.168+68A>T NP_001341233.1:n.168+68A>T
XM_017019370.2:c.168+68A>T XP_016874859.1:n.168+68A>T
NM_000277.3:c.168+68A>T MANE Select NP_000268.1:n.168+68A>T
NM_001354304.2:c.168+68A>T NP_001341233.1:n.168+68A>T
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