Canonical Allele Identifier: CA229263
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102464
ClinVar RCV Id: RCV000088695 RCV001543646
dbSNP Id: rs62517174
MyVariant Identifiers: chr12:g.103238178C>G (hg19) chr12:g.102844400C>G (hg38)
ERepo: CA229263/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844400C>G , CM000674.2:g.102844400C>G GRCh38
NC_000012.11:g.103238178C>G , CM000674.1:g.103238178C>G GRCh37
NC_000012.10:g.101762308C>G NCBI36
NG_008690.1:g.78203G>C
NG_008690.2:g.119011G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1001G>C MANE Select ENSP00000448059.1:p.Cys334Ser
ENST00000307000.7:c.986G>C ENSP00000303500.2:p.Cys329Ser
ENST00000549247.6:n.760G>C
ENST00000551114.2:n.663G>C
ENST00000553106.5:c.1001G>C ENSP00000448059.1:p.Cys334Ser
ENST00000635477.1:c.105G>C
ENST00000635528.1:n.516G>C
NM_000277.1:c.1001G>C NP_000268.1:p.Cys334Ser
XM_011538422.1:c.944G>C XP_011536724.1:p.Cys315Ser
NM_000277.2:c.1001G>C NP_000268.1:p.Cys334Ser
NM_001354304.1:c.1001G>C NP_001341233.1:p.Cys334Ser
NM_000277.3:c.1001G>C MANE Select NP_000268.1:p.Cys334Ser
NM_001354304.2:c.1001G>C NP_001341233.1:p.Cys334Ser
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