Canonical Allele Identifier: CA478095139
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5153940C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044774C>T , CM000674.2:g.5044774C>T GRCh38
NC_000012.11:g.5153940C>T , CM000674.1:g.5153940C>T GRCh37
NC_000012.10:g.5024201C>T NCBI36
NG_012198.1:g.5856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.627C>T MANE Select ENSP00000252321.3:p.Ala209=
ENST00000252321.4:c.627C>T ENSP00000252321.3:p.Ala209=
NM_002234.3:c.627C>T NP_002225.2:p.Ala209=
NM_002234.4:c.627C>T MANE Select NP_002225.2:p.Ala209=
Search 100 bp 5'
Search 100 bp 3'