Canonical Allele Identifier: CA383467248
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5155114T>C (hg19) chr12:g.5045948T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045948T>C , CM000674.2:g.5045948T>C GRCh38
NC_000012.11:g.5155114T>C , CM000674.1:g.5155114T>C GRCh37
NC_000012.10:g.5025375T>C NCBI36
NG_012198.1:g.7030T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1801T>C MANE Select ENSP00000252321.3:p.Tyr601His
ENST00000252321.4:c.1801T>C ENSP00000252321.3:p.Tyr601His
NM_002234.3:c.1801T>C NP_002225.2:p.Tyr601His
NM_002234.4:c.1801T>C MANE Select NP_002225.2:p.Tyr601His
Search 100 bp 5'
Search 100 bp 3'