Canonical Allele Identifier: CA478095313
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5154027T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044861T>C , CM000674.2:g.5044861T>C GRCh38
NC_000012.11:g.5154027T>C , CM000674.1:g.5154027T>C GRCh37
NC_000012.10:g.5024288T>C NCBI36
NG_012198.1:g.5943T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.714T>C MANE Select ENSP00000252321.3:p.Leu238=
ENST00000252321.4:c.714T>C ENSP00000252321.3:p.Leu238=
NM_002234.3:c.714T>C NP_002225.2:p.Leu238=
NM_002234.4:c.714T>C MANE Select NP_002225.2:p.Leu238=
Search 100 bp 5'
Search 100 bp 3'