Canonical Allele Identifier: CA386493104
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592945596
MyVariant Identifiers: chr12:g.103234286C>G (hg19) chr12:g.102840508C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840508C>G , CM000674.2:g.102840508C>G GRCh38
NC_000012.11:g.103234286C>G , CM000674.1:g.103234286C>G GRCh37
NC_000012.10:g.101758416C>G NCBI36
NG_008690.1:g.82095G>C
NG_008690.2:g.122903G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1207G>C MANE Select ENSP00000448059.1:p.Ala403Pro
ENST00000307000.7:c.1192G>C ENSP00000303500.2:p.Ala398Pro
ENST00000551114.2:n.869G>C
ENST00000553106.5:c.1207G>C ENSP00000448059.1:p.Ala403Pro
ENST00000635477.1:c.311G>C
ENST00000635528.1:n.722G>C
NM_000277.1:c.1207G>C NP_000268.1:p.Ala403Pro
XM_011538422.1:c.1150G>C XP_011536724.1:p.Ala384Pro
NM_000277.2:c.1207G>C NP_000268.1:p.Ala403Pro
NM_001354304.1:c.1207G>C NP_001341233.1:p.Ala403Pro
NM_000277.3:c.1207G>C MANE Select NP_000268.1:p.Ala403Pro
NM_001354304.2:c.1207G>C NP_001341233.1:p.Ala403Pro
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