Canonical Allele Identifier: CA383466496

Gene: KCNA5

Linked Data

• MyVariant Identifiers: chr12:g.5154754G>A (hg19) ; chr12:g.5045588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045588G>A , CM000674.2:g.5045588G>A	GRCh38
NC_000012.11:g.5154754G>A , CM000674.1:g.5154754G>A	GRCh37
NC_000012.10:g.5025015G>A	NCBI36
NG_012198.1:g.6670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1441G>A MANE Select	ENSP00000252321.3:p.Val481Met
ENST00000252321.4:c.1441G>A	ENSP00000252321.3:p.Val481Met
NM_002234.3:c.1441G>A	NP_002225.2:p.Val481Met
NM_002234.4:c.1441G>A MANE Select	NP_002225.2:p.Val481Met