Canonical Allele Identifier: CA361048696

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136975575T>C (hg19) ; chr5:g.137639886T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639886T>C , CM000667.2:g.137639886T>C	GRCh38
NC_000005.9:g.136975575T>C , CM000667.1:g.136975575T>C	GRCh37
NC_000005.8:g.137003474T>C	NCBI36
NG_032569.1:g.101205A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.995A>G MANE Select	ENSP00000312397.4:p.Glu332Gly
ENST00000309755.8:c.995A>G	ENSP00000312397.4:p.Glu332Gly
ENST00000502381.1:n.582A>G
ENST00000504208.5:c.*335-11449A>G	ENSP00000423585.1:n.*335-11449A>G
ENST00000505853.1:c.875A>G	ENSP00000426173.1:p.Glu292Gly
ENST00000506491.5:c.749A>G	ENSP00000424828.1:p.Glu250Gly
ENST00000506873.5:n.620A>G
ENST00000508657.5:c.899A>G	ENSP00000422099.1:p.Glu300Gly
NM_001257194.1:c.899A>G	NP_001244123.1:p.Glu300Gly
NM_001257195.1:c.749A>G	NP_001244124.1:p.Glu250Gly
NM_017415.2:c.995A>G	NP_059111.2:p.Glu332Gly
NM_017415.3:c.995A>G MANE Select	NP_059111.2:p.Glu332Gly
NM_001257195.2:c.749A>G	NP_001244124.1:p.Glu250Gly