Canonical Allele Identifier: CA6399837
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs777891882
ExAC: 12:5154582 G / A
gnomAD v2: 12-5154582-G-A
gnomAD v4: 12-5045416-G-A
MyVariant Identifiers: chr12:g.5154582G>A (hg19) chr12:g.5045416G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045416G>A , CM000674.2:g.5045416G>A GRCh38
NC_000012.11:g.5154582G>A , CM000674.1:g.5154582G>A GRCh37
NC_000012.10:g.5024843G>A NCBI36
NG_012198.1:g.6498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1269G>A MANE Select ENSP00000252321.3:p.Leu423=
ENST00000252321.4:c.1269G>A ENSP00000252321.3:p.Leu423=
NM_002234.3:c.1269G>A NP_002225.2:p.Leu423=
NM_002234.4:c.1269G>A MANE Select NP_002225.2:p.Leu423=
Search 100 bp 5'
Search 100 bp 3'