Canonical Allele Identifier: CA2620507538
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102912734-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912734A>G , CM000674.2:g.102912734A>G GRCh38
NC_000012.11:g.103306512A>G , CM000674.1:g.103306512A>G GRCh37
NC_000012.10:g.101830642A>G NCBI36
NG_008690.1:g.9869T>C
NG_008690.2:g.50677T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+57T>C MANE Select ENSP00000448059.1:n.168+57T>C
ENST00000307000.7:c.153+57T>C ENSP00000303500.2:n.153+57T>C
ENST00000546844.1:c.168+57T>C ENSP00000446658.1:n.168+57T>C
ENST00000548677.2:n.255+57T>C
ENST00000548928.1:n.90+57T>C
ENST00000549111.5:n.264+57T>C
ENST00000550978.6:c.152+57T>C
ENST00000551337.5:c.168+57T>C ENSP00000447620.1:n.168+57T>C
ENST00000551988.5:n.257+57T>C
ENST00000553106.5:c.168+57T>C ENSP00000448059.1:n.168+57T>C
ENST00000635500.1:n.136+57T>C
NM_000277.1:c.168+57T>C NP_000268.1:n.168+57T>C
XM_011538422.1:c.168+57T>C XP_011536724.1:n.168+57T>C
NM_000277.2:c.168+57T>C NP_000268.1:n.168+57T>C
NM_001354304.1:c.168+57T>C NP_001341233.1:n.168+57T>C
XM_017019370.2:c.168+57T>C XP_016874859.1:n.168+57T>C
NM_000277.3:c.168+57T>C MANE Select NP_000268.1:n.168+57T>C
NM_001354304.2:c.168+57T>C NP_001341233.1:n.168+57T>C
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