Canonical Allele Identifier: CA383462114

Gene: KCNA5

Linked Data

• gnomAD v4: 12-5044361-G-T
• MyVariant Identifiers: chr12:g.5153527G>T (hg19) ; chr12:g.5044361G>T (hg38)

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