Canonical Allele Identifier: CA446556443
Gene: KLHL3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.136964119T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137628430T>A , CM000667.2:g.137628430T>A GRCh38
NC_000005.9:g.136964119T>A , CM000667.1:g.136964119T>A GRCh37
NC_000005.8:g.136992018T>A NCBI36
NG_032569.1:g.112661A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309755.9:c.1458A>T MANE Select ENSP00000312397.4:p.Gly486=
ENST00000309755.8:c.1458A>T ENSP00000312397.4:p.Gly486=
ENST00000447439.6:n.1514A>T
ENST00000504208.5:c.*342A>T ENSP00000423585.1:n.*342A>T
ENST00000506491.5:c.1212A>T ENSP00000424828.1:p.Gly404=
ENST00000506873.5:n.981A>T
ENST00000508657.5:c.1362A>T ENSP00000422099.1:p.Gly454=
ENST00000509694.1:n.251A>T
NM_001257194.1:c.1362A>T NP_001244123.1:p.Gly454=
NM_001257195.1:c.1212A>T NP_001244124.1:p.Gly404=
NM_017415.2:c.1458A>T NP_059111.2:p.Gly486=
NM_017415.3:c.1458A>T MANE Select NP_059111.2:p.Gly486=
NM_001257195.2:c.1212A>T NP_001244124.1:p.Gly404=