Canonical Allele Identifier: CA951260701
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1878405116
gnomAD v3: 12-102916935-G-C
gnomAD v4: 12-102916935-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916935G>C , CM000674.2:g.102916935G>C GRCh38
NC_000012.11:g.103310713G>C , CM000674.1:g.103310713G>C GRCh37
NC_000012.10:g.101834843G>C NCBI36
NG_008690.1:g.5668C>G
NG_008690.2:g.46476C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+136C>G MANE Select ENSP00000448059.1:n.60+136C>G
ENST00000307000.7:c.-88+136C>G ENSP00000303500.2:n.-88+136C>G
ENST00000546844.1:c.60+136C>G ENSP00000446658.1:n.60+136C>G
ENST00000547319.1:n.371+136C>G
ENST00000549111.5:n.156+136C>G
ENST00000550978.6:c.44+136C>G
ENST00000551337.5:c.60+136C>G ENSP00000447620.1:n.60+136C>G
ENST00000551988.5:n.149+136C>G
ENST00000553106.5:c.60+136C>G ENSP00000448059.1:n.60+136C>G
ENST00000635500.1:n.29-4037C>G
NM_000277.1:c.60+136C>G NP_000268.1:n.60+136C>G
XM_011538422.1:c.60+136C>G XP_011536724.1:n.60+136C>G
NM_000277.2:c.60+136C>G NP_000268.1:n.60+136C>G
NM_001354304.1:c.60+136C>G NP_001341233.1:n.60+136C>G
XM_017019370.2:c.60+136C>G XP_016874859.1:n.60+136C>G
NM_000277.3:c.60+136C>G MANE Select NP_000268.1:n.60+136C>G
NM_001354304.2:c.60+136C>G NP_001341233.1:n.60+136C>G
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