Canonical Allele Identifier: CA229674
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102772
ClinVar RCV Id: RCV000089022 RCV000758101
dbSNP Id: rs62508617
MyVariant Identifiers: chr12:g.103248970C>T (hg19) chr12:g.102855192C>T (hg38)
ERepo: CA229674/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855192C>T , CM000674.2:g.102855192C>T GRCh38
NC_000012.11:g.103248970C>T , CM000674.1:g.103248970C>T GRCh37
NC_000012.10:g.101773100C>T NCBI36
NG_008690.1:g.67411G>A
NG_008690.2:g.108219G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.650G>A MANE Select ENSP00000448059.1:p.Cys217Tyr
ENST00000307000.7:c.635G>A ENSP00000303500.2:p.Cys212Tyr
ENST00000549111.5:n.746G>A
ENST00000553106.5:c.650G>A ENSP00000448059.1:p.Cys217Tyr
NM_000277.1:c.650G>A NP_000268.1:p.Cys217Tyr
XM_011538422.1:c.650G>A XP_011536724.1:p.Cys217Tyr
NM_000277.2:c.650G>A NP_000268.1:p.Cys217Tyr
NM_001354304.1:c.650G>A NP_001341233.1:p.Cys217Tyr
XM_017019370.2:c.650G>A XP_016874859.1:p.Cys217Tyr
NM_000277.3:c.650G>A MANE Select NP_000268.1:p.Cys217Tyr
NM_001354304.2:c.650G>A NP_001341233.1:p.Cys217Tyr
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