Canonical Allele Identifier: CA383467260
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045952-C-T
MyVariant Identifiers: chr12:g.5155118C>T (hg19) chr12:g.5045952C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045952C>T , CM000674.2:g.5045952C>T GRCh38
NC_000012.11:g.5155118C>T , CM000674.1:g.5155118C>T GRCh37
NC_000012.10:g.5025379C>T NCBI36
NG_012198.1:g.7034C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1805C>T MANE Select ENSP00000252321.3:p.Ala602Val
ENST00000252321.4:c.1805C>T ENSP00000252321.3:p.Ala602Val
NM_002234.3:c.1805C>T NP_002225.2:p.Ala602Val
NM_002234.4:c.1805C>T MANE Select NP_002225.2:p.Ala602Val
Search 100 bp 5'
Search 100 bp 3'