Canonical Allele Identifier: CA349703740
Gene: PDE11A HGNC NCBI

Linked Data

gnomAD v4: 2-178014325-G-C
MyVariant Identifiers: chr2:g.178879052G>C (hg19) chr2:g.178014325G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178014325G>C , CM000664.2:g.178014325G>C GRCh38
NC_000002.11:g.178879052G>C , CM000664.1:g.178879052G>C GRCh37
NC_000002.10:g.178587298G>C NCBI36
NG_012168.1:g.99015C>G
NG_012168.2:g.99015C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286063.11:c.1048C>G MANE Select ENSP00000286063.5:p.Pro350Ala
ENST00000286063.10:c.1048C>G ENSP00000286063.5:p.Pro350Ala
ENST00000358450.8:c.298C>G ENSP00000351232.4:p.Pro100Ala
NM_001077197.1:c.298C>G NP_001070665.1:p.Pro100Ala
NM_016953.3:c.1048C>G NP_058649.3:p.Pro350Ala
NM_016953.4:c.1048C>G MANE Select NP_058649.3:p.Pro350Ala
NM_001077197.2:c.298C>G NP_001070665.1:p.Pro100Ala
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