Canonical Allele Identifier: CA383466750

Gene: KCNA5

Linked Data

• dbSNP Id: rs1288639768
• gnomAD v2: 12-5154875-A-G
• gnomAD v4: 12-5045709-A-G
• MyVariant Identifiers: chr12:g.5154875A>G (hg19) ; chr12:g.5045709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045709A>G , CM000674.2:g.5045709A>G	GRCh38
NC_000012.11:g.5154875A>G , CM000674.1:g.5154875A>G	GRCh37
NC_000012.10:g.5025136A>G	NCBI36
NG_012198.1:g.6791A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1562A>G MANE Select	ENSP00000252321.3:p.Tyr521Cys
ENST00000252321.4:c.1562A>G	ENSP00000252321.3:p.Tyr521Cys
NM_002234.3:c.1562A>G	NP_002225.2:p.Tyr521Cys
NM_002234.4:c.1562A>G MANE Select	NP_002225.2:p.Tyr521Cys