Canonical Allele Identifier: CA242468833
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs892614489
gnomAD v3: 12-102912720-G-T
gnomAD v4: 12-102912720-G-T
MyVariant Identifiers: chr12:g.103306498G>T (hg19) chr12:g.102912720G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912720G>T , CM000674.2:g.102912720G>T GRCh38
NC_000012.11:g.103306498G>T , CM000674.1:g.103306498G>T GRCh37
NC_000012.10:g.101830628G>T NCBI36
NG_008690.1:g.9883C>A
NG_008690.2:g.50691C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+71C>A MANE Select ENSP00000448059.1:n.168+71C>A
ENST00000307000.7:c.153+71C>A ENSP00000303500.2:n.153+71C>A
ENST00000546844.1:c.168+71C>A ENSP00000446658.1:n.168+71C>A
ENST00000548677.2:n.255+71C>A
ENST00000548928.1:n.90+71C>A
ENST00000549111.5:n.264+71C>A
ENST00000550978.6:c.152+71C>A
ENST00000551337.5:c.168+71C>A ENSP00000447620.1:n.168+71C>A
ENST00000551988.5:n.257+71C>A
ENST00000553106.5:c.168+71C>A ENSP00000448059.1:n.168+71C>A
ENST00000635500.1:n.136+71C>A
NM_000277.1:c.168+71C>A NP_000268.1:n.168+71C>A
XM_011538422.1:c.168+71C>A XP_011536724.1:n.168+71C>A
NM_000277.2:c.168+71C>A NP_000268.1:n.168+71C>A
NM_001354304.1:c.168+71C>A NP_001341233.1:n.168+71C>A
XM_017019370.2:c.168+71C>A XP_016874859.1:n.168+71C>A
NM_000277.3:c.168+71C>A MANE Select NP_000268.1:n.168+71C>A
NM_001354304.2:c.168+71C>A NP_001341233.1:n.168+71C>A
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