Canonical Allele Identifier: CA6399705
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs754253311
ExAC: 12:5154042 G / A
gnomAD v2: 12-5154042-G-A
gnomAD v3: 12-5044876-G-A
gnomAD v4: 12-5044876-G-A
MyVariant Identifiers: chr12:g.5154042G>A (hg19) chr12:g.5044876G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044876G>A , CM000674.2:g.5044876G>A GRCh38
NC_000012.11:g.5154042G>A , CM000674.1:g.5154042G>A GRCh37
NC_000012.10:g.5024303G>A NCBI36
NG_012198.1:g.5958G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.729G>A MANE Select ENSP00000252321.3:p.Pro243=
ENST00000252321.4:c.729G>A ENSP00000252321.3:p.Pro243=
NM_002234.3:c.729G>A NP_002225.2:p.Pro243=
NM_002234.4:c.729G>A MANE Select NP_002225.2:p.Pro243=
Search 100 bp 5'
Search 100 bp 3'