Canonical Allele Identifier: CA383461698
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044150-G-T
MyVariant Identifiers: chr12:g.5153316G>T (hg19) chr12:g.5044150G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044150G>T , CM000674.2:g.5044150G>T GRCh38
NC_000012.11:g.5153316G>T , CM000674.1:g.5153316G>T GRCh37
NC_000012.10:g.5023577G>T NCBI36
NG_012198.1:g.5232G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.3G>T MANE Select ENSP00000252321.3:p.Met1Ile
ENST00000252321.4:c.3G>T ENSP00000252321.3:p.Met1Ile
NM_002234.3:c.3G>T NP_002225.2:p.Met1Ile
NM_002234.4:c.3G>T MANE Select NP_002225.2:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'