Canonical Allele Identifier: CA478095613
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1368329292
gnomAD v2: 12-5154366-G-A
gnomAD v4: 12-5045200-G-A
MyVariant Identifiers: chr12:g.5154366G>A (hg19) chr12:g.5045200G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045200G>A , CM000674.2:g.5045200G>A GRCh38
NC_000012.11:g.5154366G>A , CM000674.1:g.5154366G>A GRCh37
NC_000012.10:g.5024627G>A NCBI36
NG_012198.1:g.6282G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1053G>A MANE Select ENSP00000252321.3:p.Gly351=
ENST00000252321.4:c.1053G>A ENSP00000252321.3:p.Gly351=
NM_002234.3:c.1053G>A NP_002225.2:p.Gly351=
NM_002234.4:c.1053G>A MANE Select NP_002225.2:p.Gly351=
Search 100 bp 5'
Search 100 bp 3'