Canonical Allele Identifier: CA383464812
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044771-G-C
MyVariant Identifiers: chr12:g.5153937G>C (hg19) chr12:g.5044771G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044771G>C , CM000674.2:g.5044771G>C GRCh38
NC_000012.11:g.5153937G>C , CM000674.1:g.5153937G>C GRCh37
NC_000012.10:g.5024198G>C NCBI36
NG_012198.1:g.5853G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.624G>C MANE Select ENSP00000252321.3:p.Glu208Asp
ENST00000252321.4:c.624G>C ENSP00000252321.3:p.Glu208Asp
NM_002234.3:c.624G>C NP_002225.2:p.Glu208Asp
NM_002234.4:c.624G>C MANE Select NP_002225.2:p.Glu208Asp
Search 100 bp 5'
Search 100 bp 3'