Canonical Allele Identifier: CA12294508
Gene: KCNK5 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10456100

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39215694C>T , CM000668.2:g.39215694C>T GRCh38
NC_000006.11:g.39183470C>T , CM000668.1:g.39183470C>T GRCh37
NC_000006.10:g.39291448C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_003740.3:c.186+13232G>A VV NP_003731.1:p.=
XM_005249456.1:c.186+13232G>A XP_005249513.1:p.=
NM_003740.4:c.186+13232G>A VV MANE Preferred NP_003731.1:p.=
ENST00000359534.3:c.186+13232G>A ENSP00000352527.3:p.=