Canonical Allele Identifier: CA383465181

Gene: KCNA5

Linked Data

• MyVariant Identifiers: chr12:g.5154113T>A (hg19) ; chr12:g.5044947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044947T>A , CM000674.2:g.5044947T>A	GRCh38
NC_000012.11:g.5154113T>A , CM000674.1:g.5154113T>A	GRCh37
NC_000012.10:g.5024374T>A	NCBI36
NG_012198.1:g.6029T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.800T>A MANE Select	ENSP00000252321.3:p.Phe267Tyr
ENST00000252321.4:c.800T>A	ENSP00000252321.3:p.Phe267Tyr
NM_002234.3:c.800T>A	NP_002225.2:p.Phe267Tyr
NM_002234.4:c.800T>A MANE Select	NP_002225.2:p.Phe267Tyr