Canonical Allele Identifier: CA383461772
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5153351C>G (hg19) chr12:g.5044185C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044185C>G , CM000674.2:g.5044185C>G GRCh38
NC_000012.11:g.5153351C>G , CM000674.1:g.5153351C>G GRCh37
NC_000012.10:g.5023612C>G NCBI36
NG_012198.1:g.5267C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.38C>G MANE Select ENSP00000252321.3:p.Ala13Gly
ENST00000252321.4:c.38C>G ENSP00000252321.3:p.Ala13Gly
NM_002234.3:c.38C>G NP_002225.2:p.Ala13Gly
NM_002234.4:c.38C>G MANE Select NP_002225.2:p.Ala13Gly
Search 100 bp 5'
Search 100 bp 3'