Canonical Allele Identifier: CA383461930
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs972478465
gnomAD v2: 12-5153431-G-T
gnomAD v4: 12-5044265-G-T
MyVariant Identifiers: chr12:g.5153431G>T (hg19) chr12:g.5044265G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044265G>T , CM000674.2:g.5044265G>T GRCh38
NC_000012.11:g.5153431G>T , CM000674.1:g.5153431G>T GRCh37
NC_000012.10:g.5023692G>T NCBI36
NG_012198.1:g.5347G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.118G>T MANE Select ENSP00000252321.3:p.Ala40Ser
ENST00000252321.4:c.118G>T ENSP00000252321.3:p.Ala40Ser
NM_002234.3:c.118G>T NP_002225.2:p.Ala40Ser
NM_002234.4:c.118G>T MANE Select NP_002225.2:p.Ala40Ser
Search 100 bp 5'
Search 100 bp 3'