Canonical Allele Identifier: CA349703805
Gene: PDE11A HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.178879082G>T (hg19) chr2:g.178014355G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178014355G>T , CM000664.2:g.178014355G>T GRCh38
NC_000002.11:g.178879082G>T , CM000664.1:g.178879082G>T GRCh37
NC_000002.10:g.178587328G>T NCBI36
NG_012168.1:g.98985C>A
NG_012168.2:g.98985C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286063.11:c.1018C>A MANE Select ENSP00000286063.5:p.Gln340Lys
ENST00000286063.10:c.1018C>A ENSP00000286063.5:p.Gln340Lys
ENST00000358450.8:c.268C>A ENSP00000351232.4:p.Gln90Lys
NM_001077197.1:c.268C>A NP_001070665.1:p.Gln90Lys
NM_016953.3:c.1018C>A NP_058649.3:p.Gln340Lys
NM_016953.4:c.1018C>A MANE Select NP_058649.3:p.Gln340Lys
NM_001077197.2:c.268C>A NP_001070665.1:p.Gln90Lys
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