Canonical Allele Identifier: CA386304258
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103288689T>G (hg19) chr12:g.102894911T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894911T>G , CM000674.2:g.102894911T>G GRCh38
NC_000012.11:g.103288689T>G , CM000674.1:g.103288689T>G GRCh37
NC_000012.10:g.101812819T>G NCBI36
NG_008690.1:g.27692A>C
NG_008690.2:g.68500A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.176A>C MANE Select ENSP00000448059.1:p.Asp59Ala
ENST00000307000.7:c.161A>C ENSP00000303500.2:p.Asp54Ala
ENST00000546844.1:c.176A>C ENSP00000446658.1:p.Asp59Ala
ENST00000548677.2:n.263A>C
ENST00000548928.1:n.98A>C
ENST00000549111.5:n.272A>C
ENST00000550978.6:c.160A>C
ENST00000551337.5:c.176A>C ENSP00000447620.1:p.Asp59Ala
ENST00000551988.5:n.265A>C
ENST00000553106.5:c.176A>C ENSP00000448059.1:p.Asp59Ala
ENST00000635500.1:n.144A>C
NM_000277.1:c.176A>C NP_000268.1:p.Asp59Ala
XM_011538422.1:c.176A>C XP_011536724.1:p.Asp59Ala
NM_000277.2:c.176A>C NP_000268.1:p.Asp59Ala
NM_001354304.1:c.176A>C NP_001341233.1:p.Asp59Ala
XM_017019370.2:c.176A>C XP_016874859.1:p.Asp59Ala
NM_000277.3:c.176A>C MANE Select NP_000268.1:p.Asp59Ala
NM_001354304.2:c.176A>C NP_001341233.1:p.Asp59Ala
Search 100 bp 5'
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