Canonical Allele Identifier: CA61449343
Gene: PDE11A HGNC NCBI

Linked Data

dbSNP Id: rs968920790
gnomAD v2: 2-178879000-T-A
gnomAD v3: 2-178014273-T-A
gnomAD v4: 2-178014273-T-A
MyVariant Identifiers: chr2:g.178879000T>A (hg19) chr2:g.178014273T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178014273T>A , CM000664.2:g.178014273T>A GRCh38
NC_000002.11:g.178879000T>A , CM000664.1:g.178879000T>A GRCh37
NC_000002.10:g.178587246T>A NCBI36
NG_012168.1:g.99067A>T
NG_012168.2:g.99067A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286063.11:c.1071+29A>T MANE Select ENSP00000286063.5:n.1071+29A>T
ENST00000286063.10:c.1071+29A>T ENSP00000286063.5:n.1071+29A>T
ENST00000358450.8:c.321+29A>T ENSP00000351232.4:n.321+29A>T
NM_001077197.1:c.321+29A>T NP_001070665.1:n.321+29A>T
NM_016953.3:c.1071+29A>T NP_058649.3:n.1071+29A>T
NM_016953.4:c.1071+29A>T MANE Select NP_058649.3:n.1071+29A>T
NM_001077197.2:c.321+29A>T NP_001070665.1:n.321+29A>T
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