Canonical Allele Identifier: CA383462133
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044371-T-C
MyVariant Identifiers: chr12:g.5153537T>C (hg19) chr12:g.5044371T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044371T>C , CM000674.2:g.5044371T>C GRCh38
NC_000012.11:g.5153537T>C , CM000674.1:g.5153537T>C GRCh37
NC_000012.10:g.5023798T>C NCBI36
NG_012198.1:g.5453T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.224T>C MANE Select ENSP00000252321.3:p.Val75Ala
ENST00000252321.4:c.224T>C ENSP00000252321.3:p.Val75Ala
NM_002234.3:c.224T>C NP_002225.2:p.Val75Ala
NM_002234.4:c.224T>C MANE Select NP_002225.2:p.Val75Ala
Search 100 bp 5'
Search 100 bp 3'