Canonical Allele Identifier: CA383462145

Gene: KCNA5

Linked Data

• MyVariant Identifiers: chr12:g.5153545T>G (hg19) ; chr12:g.5044379T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044379T>G , CM000674.2:g.5044379T>G	GRCh38
NC_000012.11:g.5153545T>G , CM000674.1:g.5153545T>G	GRCh37
NC_000012.10:g.5023806T>G	NCBI36
NG_012198.1:g.5461T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.232T>G MANE Select	ENSP00000252321.3:p.Leu78Val
ENST00000252321.4:c.232T>G	ENSP00000252321.3:p.Leu78Val
NM_002234.3:c.232T>G	NP_002225.2:p.Leu78Val
NM_002234.4:c.232T>G MANE Select	NP_002225.2:p.Leu78Val