Canonical Allele Identifier: CA383461897
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044248-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044248T>C , CM000674.2:g.5044248T>C GRCh38
NC_000012.11:g.5153414T>C , CM000674.1:g.5153414T>C GRCh37
NC_000012.10:g.5023675T>C NCBI36
NG_012198.1:g.5330T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.101T>C MANE Select ENSP00000252321.3:p.Leu34Pro
ENST00000252321.4:c.101T>C ENSP00000252321.3:p.Leu34Pro
NM_002234.3:c.101T>C NP_002225.2:p.Leu34Pro
NM_002234.4:c.101T>C MANE Select NP_002225.2:p.Leu34Pro