Canonical Allele Identifier: CA383464757
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044743A>C , CM000674.2:g.5044743A>C GRCh38
NC_000012.11:g.5153909A>C , CM000674.1:g.5153909A>C GRCh37
NC_000012.10:g.5024170A>C NCBI36
NG_012198.1:g.5825A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.596A>C MANE Select ENSP00000252321.3:p.Glu199Ala
ENST00000252321.4:c.596A>C ENSP00000252321.3:p.Glu199Ala
NM_002234.3:c.596A>C NP_002225.2:p.Glu199Ala
NM_002234.4:c.596A>C MANE Select NP_002225.2:p.Glu199Ala