Canonical Allele Identifier: CA383467322
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1270897998
gnomAD v2: 12-5155149-T-A
gnomAD v4: 12-5045983-T-A
MyVariant Identifiers: chr12:g.5155149T>A (hg19) chr12:g.5045983T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045983T>A , CM000674.2:g.5045983T>A GRCh38
NC_000012.11:g.5155149T>A , CM000674.1:g.5155149T>A GRCh37
NC_000012.10:g.5025410T>A NCBI36
NG_012198.1:g.7065T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1836T>A MANE Select ENSP00000252321.3:p.Asp612Glu
ENST00000252321.4:c.1836T>A ENSP00000252321.3:p.Asp612Glu
NM_002234.3:c.1836T>A NP_002225.2:p.Asp612Glu
NM_002234.4:c.1836T>A MANE Select NP_002225.2:p.Asp612Glu
Search 100 bp 5'
Search 100 bp 3'