Canonical Allele Identifier: CA383466629
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5154817A>C (hg19) chr12:g.5045651A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045651A>C , CM000674.2:g.5045651A>C GRCh38
NC_000012.11:g.5154817A>C , CM000674.1:g.5154817A>C GRCh37
NC_000012.10:g.5025078A>C NCBI36
NG_012198.1:g.6733A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1504A>C MANE Select ENSP00000252321.3:p.Ile502Leu
ENST00000252321.4:c.1504A>C ENSP00000252321.3:p.Ile502Leu
NM_002234.3:c.1504A>C NP_002225.2:p.Ile502Leu
NM_002234.4:c.1504A>C MANE Select NP_002225.2:p.Ile502Leu
Search 100 bp 5'
Search 100 bp 3'