Canonical Allele Identifier: CA383462020
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044310-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044310G>T , CM000674.2:g.5044310G>T GRCh38
NC_000012.11:g.5153476G>T , CM000674.1:g.5153476G>T GRCh37
NC_000012.10:g.5023737G>T NCBI36
NG_012198.1:g.5392G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.163G>T MANE Select ENSP00000252321.3:p.Gly55Cys
ENST00000252321.4:c.163G>T ENSP00000252321.3:p.Gly55Cys
NM_002234.3:c.163G>T NP_002225.2:p.Gly55Cys
NM_002234.4:c.163G>T MANE Select NP_002225.2:p.Gly55Cys