Canonical Allele Identifier: CA383464759
Gene: KCNA5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5153910G>T (hg19) chr12:g.5044744G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044744G>T , CM000674.2:g.5044744G>T GRCh38
NC_000012.11:g.5153910G>T , CM000674.1:g.5153910G>T GRCh37
NC_000012.10:g.5024171G>T NCBI36
NG_012198.1:g.5826G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.597G>T MANE Select ENSP00000252321.3:p.Glu199Asp
ENST00000252321.4:c.597G>T ENSP00000252321.3:p.Glu199Asp
NM_002234.3:c.597G>T NP_002225.2:p.Glu199Asp
NM_002234.4:c.597G>T MANE Select NP_002225.2:p.Glu199Asp
Search 100 bp 5'
Search 100 bp 3'