Canonical Allele Identifier: CA16020901
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 619151
ClinVar RCV Id: RCV000758102 RCV003387922
dbSNP Id: rs763115697
MyVariant Identifiers: chr12:g.103240708C>G (hg19) chr12:g.102846930C>G (hg38)
ERepo: CA16020901/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846930C>G , CM000674.2:g.102846930C>G GRCh38
NC_000012.11:g.103240708C>G , CM000674.1:g.103240708C>G GRCh37
NC_000012.10:g.101764838C>G NCBI36
NG_008690.1:g.75673G>C
NG_008690.2:g.116481G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.934G>C MANE Select ENSP00000448059.1:p.Gly312Arg
ENST00000307000.7:c.919G>C ENSP00000303500.2:p.Gly307Arg
ENST00000549247.6:n.693G>C
ENST00000551114.2:n.596G>C
ENST00000553106.5:c.934G>C ENSP00000448059.1:p.Gly312Arg
ENST00000635477.1:c.74-2499G>C
ENST00000635528.1:n.449G>C
NM_000277.1:c.934G>C NP_000268.1:p.Gly312Arg
XM_011538422.1:c.913-2499G>C XP_011536724.1:n.913-2499G>C
NM_000277.2:c.934G>C NP_000268.1:p.Gly312Arg
NM_001354304.1:c.934G>C NP_001341233.1:p.Gly312Arg
NM_000277.3:c.934G>C MANE Select NP_000268.1:p.Gly312Arg
NM_001354304.2:c.934G>C NP_001341233.1:p.Gly312Arg
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