Canonical Allele Identifier: CA10603784
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 281024
ClinVar RCV Id: RCV000300336
dbSNP Id: rs886042078
gnomAD v3: 12-102855252-A-C
gnomAD v4: 12-102855252-A-C
MyVariant Identifiers: chr12:g.103249030A>C (hg19) chr12:g.102855252A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855252A>C , CM000674.2:g.102855252A>C GRCh38
NC_000012.11:g.103249030A>C , CM000674.1:g.103249030A>C GRCh37
NC_000012.10:g.101773160A>C NCBI36
NG_008690.1:g.67351T>G
NG_008690.2:g.108159T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.590T>G MANE Select ENSP00000448059.1:p.Leu197Trp
ENST00000307000.7:c.575T>G ENSP00000303500.2:p.Leu192Trp
ENST00000549111.5:n.686T>G
ENST00000553106.5:c.590T>G ENSP00000448059.1:p.Leu197Trp
NM_000277.1:c.590T>G NP_000268.1:p.Leu197Trp
XM_011538422.1:c.590T>G XP_011536724.1:p.Leu197Trp
NM_000277.2:c.590T>G NP_000268.1:p.Leu197Trp
NM_001354304.1:c.590T>G NP_001341233.1:p.Leu197Trp
XM_017019370.2:c.590T>G XP_016874859.1:p.Leu197Trp
NM_000277.3:c.590T>G MANE Select NP_000268.1:p.Leu197Trp
NM_001354304.2:c.590T>G NP_001341233.1:p.Leu197Trp
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