Canonical Allele Identifier: CA383466834
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5045747-G-C
MyVariant Identifiers: chr12:g.5154913G>C (hg19) chr12:g.5045747G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045747G>C , CM000674.2:g.5045747G>C GRCh38
NC_000012.11:g.5154913G>C , CM000674.1:g.5154913G>C GRCh37
NC_000012.10:g.5025174G>C NCBI36
NG_012198.1:g.6829G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1600G>C MANE Select ENSP00000252321.3:p.Val534Leu
ENST00000252321.4:c.1600G>C ENSP00000252321.3:p.Val534Leu
NM_002234.3:c.1600G>C NP_002225.2:p.Val534Leu
NM_002234.4:c.1600G>C MANE Select NP_002225.2:p.Val534Leu
Search 100 bp 5'
Search 100 bp 3'