Canonical Allele Identifier: CA2575266728
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102843826-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843826A>C , CM000674.2:g.102843826A>C GRCh38
NC_000012.11:g.103237604A>C , CM000674.1:g.103237604A>C GRCh37
NC_000012.10:g.101761734A>C NCBI36
NG_008690.1:g.78777T>G
NG_008690.2:g.119585T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1066-47T>G MANE Select ENSP00000448059.1:n.1066-47T>G
ENST00000307000.7:c.1051-47T>G ENSP00000303500.2:n.1051-47T>G
ENST00000549247.6:n.825-47T>G
ENST00000551114.2:n.728-47T>G
ENST00000553106.5:c.1066-47T>G ENSP00000448059.1:n.1066-47T>G
ENST00000635477.1:c.170-47T>G
ENST00000635528.1:n.581-47T>G
NM_000277.1:c.1066-47T>G NP_000268.1:n.1066-47T>G
XM_011538422.1:c.1009-47T>G XP_011536724.1:n.1009-47T>G
NM_000277.2:c.1066-47T>G NP_000268.1:n.1066-47T>G
NM_001354304.1:c.1066-47T>G NP_001341233.1:n.1066-47T>G
NM_000277.3:c.1066-47T>G MANE Select NP_000268.1:n.1066-47T>G
NM_001354304.2:c.1066-47T>G NP_001341233.1:n.1066-47T>G
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