Canonical Allele Identifier: CA129307

Gene: KLHL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137625818T>C , CM000667.2:g.137625818T>C	GRCh38
NC_000005.9:g.136961507T>C , CM000667.1:g.136961507T>C	GRCh37
NC_000005.8:g.136989406T>C	NCBI36
NG_032569.1:g.115273A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017415.3:c.1670A>G MANE Select	NP_059111.2:p.Tyr557Cys
ENST00000309755.9:c.1670A>G MANE Select	ENSP00000312397.4:p.Tyr557Cys
NM_001257194.1:c.1574A>G	NP_001244123.1:p.Tyr525Cys
NM_001257195.1:c.1424A>G	NP_001244124.1:p.Tyr475Cys
NM_001257195.2:c.1424A>G	NP_001244124.1:p.Tyr475Cys
NM_017415.2:c.1670A>G	NP_059111.2:p.Tyr557Cys
ENST00000309755.8:c.1670A>G	ENSP00000312397.4:p.Tyr557Cys
ENST00000447439.6:n.1726A>G
ENST00000504208.5:c.*554A>G	ENSP00000423585.1:n.*554A>G
ENST00000506491.5:c.1424A>G	ENSP00000424828.1:p.Tyr475Cys
ENST00000506873.5:n.1193A>G
ENST00000508657.5:c.1574A>G	ENSP00000422099.1:p.Tyr525Cys
ENST00000509694.1:n.622+2241A>G