Canonical Allele Identifier: CA386304246
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1514901
ClinVar RCV Id: RCV002029638
dbSNP Id: rs2136702181
MyVariant Identifiers: chr12:g.103288683T>C (hg19) chr12:g.102894905T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894905T>C , CM000674.2:g.102894905T>C GRCh38
NC_000012.11:g.103288683T>C , CM000674.1:g.103288683T>C GRCh37
NC_000012.10:g.101812813T>C NCBI36
NG_008690.1:g.27698A>G
NG_008690.2:g.68506A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.182A>G MANE Select ENSP00000448059.1:p.Asn61Ser
ENST00000307000.7:c.167A>G ENSP00000303500.2:p.Asn56Ser
ENST00000546844.1:c.182A>G ENSP00000446658.1:p.Asn61Ser
ENST00000548677.2:n.269A>G
ENST00000548928.1:n.104A>G
ENST00000549111.5:n.278A>G
ENST00000550978.6:c.166A>G
ENST00000551337.5:c.182A>G ENSP00000447620.1:p.Asn61Ser
ENST00000551988.5:n.271A>G
ENST00000553106.5:c.182A>G ENSP00000448059.1:p.Asn61Ser
ENST00000635500.1:n.150A>G
NM_000277.1:c.182A>G NP_000268.1:p.Asn61Ser
XM_011538422.1:c.182A>G XP_011536724.1:p.Asn61Ser
NM_000277.2:c.182A>G NP_000268.1:p.Asn61Ser
NM_001354304.1:c.182A>G NP_001341233.1:p.Asn61Ser
XM_017019370.2:c.182A>G XP_016874859.1:p.Asn61Ser
NM_000277.3:c.182A>G MANE Select NP_000268.1:p.Asn61Ser
NM_001354304.2:c.182A>G NP_001341233.1:p.Asn61Ser
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