Canonical Allele Identifier: CA386304221
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2579754
ClinVar RCV Id: RCV003328729
MyVariant Identifiers: chr12:g.103288666A>C (hg19) chr12:g.102894888A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894888A>C , CM000674.2:g.102894888A>C GRCh38
NC_000012.11:g.103288666A>C , CM000674.1:g.103288666A>C GRCh37
NC_000012.10:g.101812796A>C NCBI36
NG_008690.1:g.27715T>G
NG_008690.2:g.68523T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.199T>G MANE Select ENSP00000448059.1:p.Ser67Ala
ENST00000307000.7:c.184T>G ENSP00000303500.2:p.Ser62Ala
ENST00000546844.1:c.199T>G ENSP00000446658.1:p.Ser67Ala
ENST00000548677.2:n.286T>G
ENST00000548928.1:n.121T>G
ENST00000549111.5:n.295T>G
ENST00000550978.6:c.183T>G
ENST00000551337.5:c.199T>G ENSP00000447620.1:p.Ser67Ala
ENST00000551988.5:n.288T>G
ENST00000553106.5:c.199T>G ENSP00000448059.1:p.Ser67Ala
ENST00000635500.1:n.167T>G
NM_000277.1:c.199T>G NP_000268.1:p.Ser67Ala
XM_011538422.1:c.199T>G XP_011536724.1:p.Ser67Ala
NM_000277.2:c.199T>G NP_000268.1:p.Ser67Ala
NM_001354304.1:c.199T>G NP_001341233.1:p.Ser67Ala
XM_017019370.2:c.199T>G XP_016874859.1:p.Ser67Ala
NM_000277.3:c.199T>G MANE Select NP_000268.1:p.Ser67Ala
NM_001354304.2:c.199T>G NP_001341233.1:p.Ser67Ala
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