Canonical Allele Identifier: CA386493408
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2103816
ClinVar RCV Id: RCV003041524
MyVariant Identifiers: chr12:g.103238130G>C (hg19) chr12:g.102844352G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844352G>C , CM000674.2:g.102844352G>C GRCh38
NC_000012.11:g.103238130G>C , CM000674.1:g.103238130G>C GRCh37
NC_000012.10:g.101762260G>C NCBI36
NG_008690.1:g.78251C>G
NG_008690.2:g.119059C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1049C>G MANE Select ENSP00000448059.1:p.Ser350Cys
ENST00000307000.7:c.1034C>G ENSP00000303500.2:p.Ser345Cys
ENST00000549247.6:n.808C>G
ENST00000551114.2:n.711C>G
ENST00000553106.5:c.1049C>G ENSP00000448059.1:p.Ser350Cys
ENST00000635477.1:c.153C>G
ENST00000635528.1:n.564C>G
NM_000277.1:c.1049C>G NP_000268.1:p.Ser350Cys
XM_011538422.1:c.992C>G XP_011536724.1:p.Ser331Cys
NM_000277.2:c.1049C>G NP_000268.1:p.Ser350Cys
NM_001354304.1:c.1049C>G NP_001341233.1:p.Ser350Cys
NM_000277.3:c.1049C>G MANE Select NP_000268.1:p.Ser350Cys
NM_001354304.2:c.1049C>G NP_001341233.1:p.Ser350Cys
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