Canonical Allele Identifier: CA383464824
Gene: KCNA5 HGNC NCBI

Linked Data

COSMIC: COSM119825
MyVariant Identifiers: chr12:g.5153943G>A (hg19) chr12:g.5044777G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044777G>A , CM000674.2:g.5044777G>A GRCh38
NC_000012.11:g.5153943G>A , CM000674.1:g.5153943G>A GRCh37
NC_000012.10:g.5024204G>A NCBI36
NG_012198.1:g.5859G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.630G>A MANE Select ENSP00000252321.3:p.Met210Ile
ENST00000252321.4:c.630G>A ENSP00000252321.3:p.Met210Ile
NM_002234.3:c.630G>A NP_002225.2:p.Met210Ile
NM_002234.4:c.630G>A MANE Select NP_002225.2:p.Met210Ile
Search 100 bp 5'
Search 100 bp 3'