Canonical Allele Identifier: CA2620507228
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102877412-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877412A>C , CM000674.2:g.102877412A>C GRCh38
NC_000012.11:g.103271190A>C , CM000674.1:g.103271190A>C GRCh37
NC_000012.10:g.101795320A>C NCBI36
NG_008690.1:g.45191T>G
NG_008690.2:g.85999T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.441+50T>G MANE Select ENSP00000448059.1:n.441+50T>G
ENST00000307000.7:c.426+50T>G ENSP00000303500.2:n.426+50T>G
ENST00000549111.5:n.537+50T>G
ENST00000550978.6:c.475T>G
ENST00000551988.5:n.530+50T>G
ENST00000553106.5:c.441+50T>G ENSP00000448059.1:n.441+50T>G
NM_000277.1:c.441+50T>G NP_000268.1:n.441+50T>G
XM_011538422.1:c.441+50T>G XP_011536724.1:n.441+50T>G
NM_000277.2:c.441+50T>G NP_000268.1:n.441+50T>G
NM_001354304.1:c.441+50T>G NP_001341233.1:n.441+50T>G
XM_017019370.2:c.441+50T>G XP_016874859.1:n.441+50T>G
NM_000277.3:c.441+50T>G MANE Select NP_000268.1:n.441+50T>G
NM_001354304.2:c.441+50T>G NP_001341233.1:n.441+50T>G
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