Canonical Allele Identifier: CA349703818
Gene: PDE11A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.178879088C>G (hg19) chr2:g.178014361C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178014361C>G , CM000664.2:g.178014361C>G GRCh38
NC_000002.11:g.178879088C>G , CM000664.1:g.178879088C>G GRCh37
NC_000002.10:g.178587334C>G NCBI36
NG_012168.1:g.98979G>C
NG_012168.2:g.98979G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286063.11:c.1012G>C MANE Select ENSP00000286063.5:p.Val338Leu
ENST00000286063.10:c.1012G>C ENSP00000286063.5:p.Val338Leu
ENST00000358450.8:c.262G>C ENSP00000351232.4:p.Val88Leu
NM_001077197.1:c.262G>C NP_001070665.1:p.Val88Leu
NM_016953.3:c.1012G>C NP_058649.3:p.Val338Leu
NM_016953.4:c.1012G>C MANE Select NP_058649.3:p.Val338Leu
NM_001077197.2:c.262G>C NP_001070665.1:p.Val88Leu
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