Canonical Allele Identifier: CA229857
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102901
ClinVar RCV Id: RCV000089165 RCV001269049
dbSNP Id: rs62642915
MyVariant Identifiers: chr12:g.103240707C>T (hg19) chr12:g.102846929C>T (hg38)
ERepo: CA229857/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846929C>T , CM000674.2:g.102846929C>T GRCh38
NC_000012.11:g.103240707C>T , CM000674.1:g.103240707C>T GRCh37
NC_000012.10:g.101764837C>T NCBI36
NG_008690.1:g.75674G>A
NG_008690.2:g.116482G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.935G>A MANE Select ENSP00000448059.1:p.Gly312Asp
ENST00000307000.7:c.920G>A ENSP00000303500.2:p.Gly307Asp
ENST00000549247.6:n.694G>A
ENST00000551114.2:n.597G>A
ENST00000553106.5:c.935G>A ENSP00000448059.1:p.Gly312Asp
ENST00000635477.1:c.74-2498G>A
ENST00000635528.1:n.450G>A
NM_000277.1:c.935G>A NP_000268.1:p.Gly312Asp
XM_011538422.1:c.913-2498G>A XP_011536724.1:n.913-2498G>A
NM_000277.2:c.935G>A NP_000268.1:p.Gly312Asp
NM_001354304.1:c.935G>A NP_001341233.1:p.Gly312Asp
NM_000277.3:c.935G>A MANE Select NP_000268.1:p.Gly312Asp
NM_001354304.2:c.935G>A NP_001341233.1:p.Gly312Asp
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