Canonical Allele Identifier: CA229801
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102861
ClinVar RCV Id: RCV000089122 RCV001789762
dbSNP Id: rs62516156
MyVariant Identifiers: chr12:g.103246603T>C (hg19) chr12:g.102852825T>C (hg38)
ERepo: CA229801/MONDO:0009861/006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852825T>C , CM000674.2:g.102852825T>C GRCh38
NC_000012.11:g.103246603T>C , CM000674.1:g.103246603T>C GRCh37
NC_000012.10:g.101770733T>C NCBI36
NG_008690.1:g.69778A>G
NG_008690.2:g.110586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.832A>G MANE Select ENSP00000448059.1:p.Thr278Ala
ENST00000307000.7:c.817A>G ENSP00000303500.2:p.Thr273Ala
ENST00000549247.6:n.591A>G
ENST00000553106.5:c.832A>G ENSP00000448059.1:p.Thr278Ala
NM_000277.1:c.832A>G NP_000268.1:p.Thr278Ala
XM_011538422.1:c.832A>G XP_011536724.1:p.Thr278Ala
NM_000277.2:c.832A>G NP_000268.1:p.Thr278Ala
NM_001354304.1:c.832A>G NP_001341233.1:p.Thr278Ala
NM_000277.3:c.832A>G MANE Select NP_000268.1:p.Thr278Ala
NM_001354304.2:c.832A>G NP_001341233.1:p.Thr278Ala
Search 100 bp 5'
Search 100 bp 3'