Canonical Allele Identifier: CA383466059

Gene: KCNA5

Linked Data

• MyVariant Identifiers: chr12:g.5154551T>A (hg19) ; chr12:g.5045385T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045385T>A , CM000674.2:g.5045385T>A	GRCh38
NC_000012.11:g.5154551T>A , CM000674.1:g.5154551T>A	GRCh37
NC_000012.10:g.5024812T>A	NCBI36
NG_012198.1:g.6467T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1238T>A MANE Select	ENSP00000252321.3:p.Leu413His
ENST00000252321.4:c.1238T>A	ENSP00000252321.3:p.Leu413His
NM_002234.3:c.1238T>A	NP_002225.2:p.Leu413His
NM_002234.4:c.1238T>A MANE Select	NP_002225.2:p.Leu413His