Canonical Allele Identifier: CA386296565
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103248932C>G (hg19) chr12:g.102855154C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855154C>G , CM000674.2:g.102855154C>G GRCh38
NC_000012.11:g.103248932C>G , CM000674.1:g.103248932C>G GRCh37
NC_000012.10:g.101773062C>G NCBI36
NG_008690.1:g.67449G>C
NG_008690.2:g.108257G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.688G>C MANE Select ENSP00000448059.1:p.Val230Leu
ENST00000307000.7:c.673G>C ENSP00000303500.2:p.Val225Leu
ENST00000549111.5:n.784G>C
ENST00000553106.5:c.688G>C ENSP00000448059.1:p.Val230Leu
NM_000277.1:c.688G>C NP_000268.1:p.Val230Leu
XM_011538422.1:c.688G>C XP_011536724.1:p.Val230Leu
NM_000277.2:c.688G>C NP_000268.1:p.Val230Leu
NM_001354304.1:c.688G>C NP_001341233.1:p.Val230Leu
XM_017019370.2:c.688G>C XP_016874859.1:p.Val230Leu
NM_000277.3:c.688G>C MANE Select NP_000268.1:p.Val230Leu
NM_001354304.2:c.688G>C NP_001341233.1:p.Val230Leu
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