Canonical Allele Identifier: CA383465328
Gene: KCNA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045018C>T , CM000674.2:g.5045018C>T GRCh38
NC_000012.11:g.5154184C>T , CM000674.1:g.5154184C>T GRCh37
NC_000012.10:g.5024445C>T NCBI36
NG_012198.1:g.6100C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.871C>T MANE Select ENSP00000252321.3:p.Pro291Ser
ENST00000252321.4:c.871C>T ENSP00000252321.3:p.Pro291Ser
NM_002234.3:c.871C>T NP_002225.2:p.Pro291Ser
NM_002234.4:c.871C>T MANE Select NP_002225.2:p.Pro291Ser