Canonical Allele Identifier: CA386493482
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103238182G>C (hg19) chr12:g.102844404G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844404G>C , CM000674.2:g.102844404G>C GRCh38
NC_000012.11:g.103238182G>C , CM000674.1:g.103238182G>C GRCh37
NC_000012.10:g.101762312G>C NCBI36
NG_008690.1:g.78199C>G
NG_008690.2:g.119007C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.997C>G MANE Select ENSP00000448059.1:p.Leu333Val
ENST00000307000.7:c.982C>G ENSP00000303500.2:p.Leu328Val
ENST00000549247.6:n.756C>G
ENST00000551114.2:n.659C>G
ENST00000553106.5:c.997C>G ENSP00000448059.1:p.Leu333Val
ENST00000635477.1:c.101C>G
ENST00000635528.1:n.512C>G
NM_000277.1:c.997C>G NP_000268.1:p.Leu333Val
XM_011538422.1:c.940C>G XP_011536724.1:p.Leu314Val
NM_000277.2:c.997C>G NP_000268.1:p.Leu333Val
NM_001354304.1:c.997C>G NP_001341233.1:p.Leu333Val
NM_000277.3:c.997C>G MANE Select NP_000268.1:p.Leu333Val
NM_001354304.2:c.997C>G NP_001341233.1:p.Leu333Val
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