Canonical Allele Identifier: CA383467114
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045886G>T , CM000674.2:g.5045886G>T GRCh38
NC_000012.11:g.5155052G>T , CM000674.1:g.5155052G>T GRCh37
NC_000012.10:g.5025313G>T NCBI36
NG_012198.1:g.6968G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1739G>T MANE Select ENSP00000252321.3:p.Ser580Ile
ENST00000252321.4:c.1739G>T ENSP00000252321.3:p.Ser580Ile
NM_002234.3:c.1739G>T NP_002225.2:p.Ser580Ile
NM_002234.4:c.1739G>T MANE Select NP_002225.2:p.Ser580Ile