Canonical Allele Identifier: CA6399664
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs776392148
ExAC: 12:5153910 G / C
gnomAD v2: 12-5153910-G-C
gnomAD v4: 12-5044744-G-C
MyVariant Identifiers: chr12:g.5153910G>C (hg19) chr12:g.5044744G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044744G>C , CM000674.2:g.5044744G>C GRCh38
NC_000012.11:g.5153910G>C , CM000674.1:g.5153910G>C GRCh37
NC_000012.10:g.5024171G>C NCBI36
NG_012198.1:g.5826G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.597G>C MANE Select ENSP00000252321.3:p.Glu199Asp
ENST00000252321.4:c.597G>C ENSP00000252321.3:p.Glu199Asp
NM_002234.3:c.597G>C NP_002225.2:p.Glu199Asp
NM_002234.4:c.597G>C MANE Select NP_002225.2:p.Glu199Asp
Search 100 bp 5'
Search 100 bp 3'