Canonical Allele Identifier: CA386493374
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874731337
MyVariant Identifiers: chr12:g.103238114C>G (hg19) chr12:g.102844336C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844336C>G , CM000674.2:g.102844336C>G GRCh38
NC_000012.11:g.103238114C>G , CM000674.1:g.103238114C>G GRCh37
NC_000012.10:g.101762244C>G NCBI36
NG_008690.1:g.78267G>C
NG_008690.2:g.119075G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1065G>C MANE Select ENSP00000448059.1:p.Gln355His
ENST00000307000.7:c.1050G>C ENSP00000303500.2:p.Gln350His
ENST00000549247.6:n.824G>C
ENST00000551114.2:n.727G>C
ENST00000553106.5:c.1065G>C ENSP00000448059.1:p.Gln355His
ENST00000635477.1:c.169G>C
ENST00000635528.1:n.580G>C
NM_000277.1:c.1065G>C NP_000268.1:p.Gln355His
XM_011538422.1:c.1008G>C XP_011536724.1:p.Gln336His
NM_000277.2:c.1065G>C NP_000268.1:p.Gln355His
NM_001354304.1:c.1065G>C NP_001341233.1:p.Gln355His
NM_000277.3:c.1065G>C MANE Select NP_000268.1:p.Gln355His
NM_001354304.2:c.1065G>C NP_001341233.1:p.Gln355His
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