Canonical Allele Identifier: CA229647
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102755
ClinVar RCV Id: RCV000089004 RCV001543658
dbSNP Id: rs1801147
MyVariant Identifiers: chr12:g.103249011G>C (hg19) chr12:g.102855233G>C (hg38)
ERepo: CA229647/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855233G>C , CM000674.2:g.102855233G>C GRCh38
NC_000012.11:g.103249011G>C , CM000674.1:g.103249011G>C GRCh37
NC_000012.10:g.101773141G>C NCBI36
NG_008690.1:g.67370C>G
NG_008690.2:g.108178C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.609C>G MANE Select ENSP00000448059.1:p.Cys203Trp
ENST00000307000.7:c.594C>G ENSP00000303500.2:p.Cys198Trp
ENST00000549111.5:n.705C>G
ENST00000553106.5:c.609C>G ENSP00000448059.1:p.Cys203Trp
NM_000277.1:c.609C>G NP_000268.1:p.Cys203Trp
XM_011538422.1:c.609C>G XP_011536724.1:p.Cys203Trp
NM_000277.2:c.609C>G NP_000268.1:p.Cys203Trp
NM_001354304.1:c.609C>G NP_001341233.1:p.Cys203Trp
XM_017019370.2:c.609C>G XP_016874859.1:p.Cys203Trp
NM_000277.3:c.609C>G MANE Select NP_000268.1:p.Cys203Trp
NM_001354304.2:c.609C>G NP_001341233.1:p.Cys203Trp
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