Canonical Allele Identifier: CA478095763
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5154912A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045746A>T , CM000674.2:g.5045746A>T GRCh38
NC_000012.11:g.5154912A>T , CM000674.1:g.5154912A>T GRCh37
NC_000012.10:g.5025173A>T NCBI36
NG_012198.1:g.6828A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1599A>T MANE Select ENSP00000252321.3:p.Ala533=
ENST00000252321.4:c.1599A>T ENSP00000252321.3:p.Ala533=
NM_002234.3:c.1599A>T NP_002225.2:p.Ala533=
NM_002234.4:c.1599A>T MANE Select NP_002225.2:p.Ala533=