Canonical Allele Identifier: CA2617210276
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5046505-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5046505T>A , CM000674.2:g.5046505T>A GRCh38
NC_000012.11:g.5155671T>A , CM000674.1:g.5155671T>A GRCh37
NC_000012.10:g.5025932T>A NCBI36
NG_012198.1:g.7587T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.*516T>A MANE Select ENSP00000252321.3:n.*516T>A
ENST00000252321.4:c.*516T>A ENSP00000252321.3:n.*516T>A
NM_002234.3:c.*516T>A NP_002225.2:n.*516T>A
NM_002234.4:c.*516T>A MANE Select NP_002225.2:n.*516T>A