Canonical Allele Identifier: CA383462114
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044361-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044361G>T , CM000674.2:g.5044361G>T GRCh38
NC_000012.11:g.5153527G>T , CM000674.1:g.5153527G>T GRCh37
NC_000012.10:g.5023788G>T NCBI36
NG_012198.1:g.5443G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.214G>T MANE Select ENSP00000252321.3:p.Asp72Tyr
ENST00000252321.4:c.214G>T ENSP00000252321.3:p.Asp72Tyr
NM_002234.3:c.214G>T NP_002225.2:p.Asp72Tyr
NM_002234.4:c.214G>T MANE Select NP_002225.2:p.Asp72Tyr