Canonical Allele Identifier: CA2059462365
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1876608999
gnomAD v4: 12-102877318-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877318C>T , CM000674.2:g.102877318C>T GRCh38
NC_000012.11:g.103271096C>T , CM000674.1:g.103271096C>T GRCh37
NC_000012.10:g.101795226C>T NCBI36
NG_008690.1:g.45285G>A
NG_008690.2:g.86093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+144G>A MANE Select ENSP00000448059.1:n.441+144G>A
ENST00000307000.7:c.426+144G>A ENSP00000303500.2:n.426+144G>A
ENST00000549111.5:n.537+144G>A
ENST00000550978.6:c.569G>A
ENST00000551988.5:n.530+144G>A
ENST00000553106.5:c.441+144G>A ENSP00000448059.1:n.441+144G>A
NM_000277.1:c.441+144G>A NP_000268.1:n.441+144G>A
XM_011538422.1:c.441+144G>A XP_011536724.1:n.441+144G>A
NM_000277.2:c.441+144G>A NP_000268.1:n.441+144G>A
NM_001354304.1:c.441+144G>A NP_001341233.1:n.441+144G>A
XM_017019370.2:c.441+144G>A XP_016874859.1:n.441+144G>A
NM_000277.3:c.441+144G>A MANE Select NP_000268.1:n.441+144G>A
NM_001354304.2:c.441+144G>A NP_001341233.1:n.441+144G>A
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