Canonical Allele Identifier: CA349703804
Gene: PDE11A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.178879081T>G (hg19) chr2:g.178014354T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178014354T>G , CM000664.2:g.178014354T>G GRCh38
NC_000002.11:g.178879081T>G , CM000664.1:g.178879081T>G GRCh37
NC_000002.10:g.178587327T>G NCBI36
NG_012168.1:g.98986A>C
NG_012168.2:g.98986A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286063.11:c.1019A>C MANE Select ENSP00000286063.5:p.Gln340Pro
ENST00000286063.10:c.1019A>C ENSP00000286063.5:p.Gln340Pro
ENST00000358450.8:c.269A>C ENSP00000351232.4:p.Gln90Pro
NM_001077197.1:c.269A>C NP_001070665.1:p.Gln90Pro
NM_016953.3:c.1019A>C NP_058649.3:p.Gln340Pro
NM_016953.4:c.1019A>C MANE Select NP_058649.3:p.Gln340Pro
NM_001077197.2:c.269A>C NP_001070665.1:p.Gln90Pro
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