Canonical Allele Identifier: CA2770729245
Gene: KCNK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39215913G>T , CM000668.2:g.39215913G>T GRCh38
NC_000006.11:g.39183689G>T , CM000668.1:g.39183689G>T GRCh37
NC_000006.10:g.39291667G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+13013C>A MANE Select ENSP00000352527.3:n.186+13013C>A
ENST00000359534.3:c.186+13013C>A ENSP00000352527.3:n.186+13013C>A
NM_003740.3:c.186+13013C>A NP_003731.1:n.186+13013C>A
XM_005249456.1:c.186+13013C>A XP_005249513.1:n.186+13013C>A
NM_003740.4:c.186+13013C>A MANE Select NP_003731.1:n.186+13013C>A