Canonical Allele Identifier: CA2620508774
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102844501-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844501A>C , CM000674.2:g.102844501A>C GRCh38
NC_000012.11:g.103238279A>C , CM000674.1:g.103238279A>C GRCh37
NC_000012.10:g.101762409A>C NCBI36
NG_008690.1:g.78102T>G
NG_008690.2:g.118910T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-70T>G MANE Select ENSP00000448059.1:n.970-70T>G
ENST00000307000.7:c.955-70T>G ENSP00000303500.2:n.955-70T>G
ENST00000549247.6:n.729-70T>G
ENST00000551114.2:n.632-70T>G
ENST00000553106.5:c.970-70T>G ENSP00000448059.1:n.970-70T>G
ENST00000635477.1:c.74-70T>G
ENST00000635528.1:n.485-70T>G
NM_000277.1:c.970-70T>G NP_000268.1:n.970-70T>G
XM_011538422.1:c.913-70T>G XP_011536724.1:n.913-70T>G
NM_000277.2:c.970-70T>G NP_000268.1:n.970-70T>G
NM_001354304.1:c.970-70T>G NP_001341233.1:n.970-70T>G
NM_000277.3:c.970-70T>G MANE Select NP_000268.1:n.970-70T>G
NM_001354304.2:c.970-70T>G NP_001341233.1:n.970-70T>G
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