Canonical Allele Identifier: CA383461915
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044256-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044256C>G , CM000674.2:g.5044256C>G GRCh38
NC_000012.11:g.5153422C>G , CM000674.1:g.5153422C>G GRCh37
NC_000012.10:g.5023683C>G NCBI36
NG_012198.1:g.5338C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.109C>G MANE Select ENSP00000252321.3:p.Pro37Ala
ENST00000252321.4:c.109C>G ENSP00000252321.3:p.Pro37Ala
NM_002234.3:c.109C>G NP_002225.2:p.Pro37Ala
NM_002234.4:c.109C>G MANE Select NP_002225.2:p.Pro37Ala