Canonical Allele Identifier: CA383464856
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044793G>A , CM000674.2:g.5044793G>A GRCh38
NC_000012.11:g.5153959G>A , CM000674.1:g.5153959G>A GRCh37
NC_000012.10:g.5024220G>A NCBI36
NG_012198.1:g.5875G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.646G>A MANE Select ENSP00000252321.3:p.Asp216Asn
ENST00000252321.4:c.646G>A ENSP00000252321.3:p.Asp216Asn
NM_002234.3:c.646G>A NP_002225.2:p.Asp216Asn
NM_002234.4:c.646G>A MANE Select NP_002225.2:p.Asp216Asn