Canonical Allele Identifier: CA2727008130
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136734298
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917177A>G , CM000674.2:g.102917177A>G GRCh38
NC_000012.11:g.103310955A>G , CM000674.1:g.103310955A>G GRCh37
NC_000012.10:g.101835085A>G NCBI36
NG_008690.1:g.5426T>C
NG_008690.2:g.46234T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-47T>C MANE Select ENSP00000448059.1:n.-47T>C
ENST00000307000.7:c.-194T>C ENSP00000303500.2:n.-194T>C
ENST00000546708.5:n.541T>C
ENST00000546844.1:c.-47T>C ENSP00000446658.1:n.-47T>C
ENST00000547319.1:n.265T>C
ENST00000549111.5:n.50T>C
ENST00000551337.5:c.-47T>C ENSP00000447620.1:n.-47T>C
ENST00000551988.5:n.43T>C
ENST00000553106.5:c.-47T>C ENSP00000448059.1:n.-47T>C
ENST00000635500.1:n.29-4279T>C
NM_000277.1:c.-47T>C NP_000268.1:n.-47T>C
XM_011538422.1:c.-47T>C XP_011536724.1:n.-47T>C
NM_000277.2:c.-47T>C NP_000268.1:n.-47T>C
NM_001354304.1:c.-47T>C NP_001341233.1:n.-47T>C
XM_017019370.2:c.-47T>C XP_016874859.1:n.-47T>C
NM_000277.3:c.-47T>C MANE Select NP_000268.1:n.-47T>C
NM_001354304.2:c.-47T>C NP_001341233.1:n.-47T>C
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