Canonical Allele Identifier: CA383461804

Gene: KCNA5

Linked Data

• dbSNP Id: rs1204966408
• gnomAD v2: 12-5153368-G-A
• gnomAD v4: 12-5044202-G-A
• MyVariant Identifiers: chr12:g.5153368G>A (hg19) ; chr12:g.5044202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044202G>A , CM000674.2:g.5044202G>A	GRCh38
NC_000012.11:g.5153368G>A , CM000674.1:g.5153368G>A	GRCh37
NC_000012.10:g.5023629G>A	NCBI36
NG_012198.1:g.5284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.55G>A MANE Select	ENSP00000252321.3:p.Gly19Ser
ENST00000252321.4:c.55G>A	ENSP00000252321.3:p.Gly19Ser
NM_002234.3:c.55G>A	NP_002225.2:p.Gly19Ser
NM_002234.4:c.55G>A MANE Select	NP_002225.2:p.Gly19Ser