Canonical Allele Identifier: CA383461848
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044223-T-G
MyVariant Identifiers: chr12:g.5153389T>G (hg19) chr12:g.5044223T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044223T>G , CM000674.2:g.5044223T>G GRCh38
NC_000012.11:g.5153389T>G , CM000674.1:g.5153389T>G GRCh37
NC_000012.10:g.5023650T>G NCBI36
NG_012198.1:g.5305T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.76T>G MANE Select ENSP00000252321.3:p.Cys26Gly
ENST00000252321.4:c.76T>G ENSP00000252321.3:p.Cys26Gly
NM_002234.3:c.76T>G NP_002225.2:p.Cys26Gly
NM_002234.4:c.76T>G MANE Select NP_002225.2:p.Cys26Gly
Search 100 bp 5'
Search 100 bp 3'