Canonical Allele Identifier: CA349703832
Gene: PDE11A HGNC NCBI

Linked Data

dbSNP Id: rs2086308187
gnomAD v3: 2-178014367-T-C
gnomAD v4: 2-178014367-T-C
MyVariant Identifiers: chr2:g.178879094T>C (hg19) chr2:g.178014367T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178014367T>C , CM000664.2:g.178014367T>C GRCh38
NC_000002.11:g.178879094T>C , CM000664.1:g.178879094T>C GRCh37
NC_000002.10:g.178587340T>C NCBI36
NG_012168.1:g.98973A>G
NG_012168.2:g.98973A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286063.11:c.1006A>G MANE Select ENSP00000286063.5:p.Ile336Val
ENST00000286063.10:c.1006A>G ENSP00000286063.5:p.Ile336Val
ENST00000358450.8:c.256A>G ENSP00000351232.4:p.Ile86Val
NM_001077197.1:c.256A>G NP_001070665.1:p.Ile86Val
NM_016953.3:c.1006A>G NP_058649.3:p.Ile336Val
NM_016953.4:c.1006A>G MANE Select NP_058649.3:p.Ile336Val
NM_001077197.2:c.256A>G NP_001070665.1:p.Ile86Val
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