Canonical Allele Identifier: CA361045355

Gene: KLHL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628301G>T , CM000667.2:g.137628301G>T	GRCh38
NC_000005.9:g.136963990G>T , CM000667.1:g.136963990G>T	GRCh37
NC_000005.8:g.136991889G>T	NCBI36
NG_032569.1:g.112790C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017415.3:c.1587C>A MANE Select	NP_059111.2:p.Asn529Lys
ENST00000309755.9:c.1587C>A MANE Select	ENSP00000312397.4:p.Asn529Lys
NM_001257194.1:c.1491C>A	NP_001244123.1:p.Asn497Lys
NM_001257195.1:c.1341C>A	NP_001244124.1:p.Asn447Lys
NM_001257195.2:c.1341C>A	NP_001244124.1:p.Asn447Lys
NM_017415.2:c.1587C>A	NP_059111.2:p.Asn529Lys
ENST00000309755.8:c.1587C>A	ENSP00000312397.4:p.Asn529Lys
ENST00000447439.6:n.1643C>A
ENST00000504208.5:c.*471C>A	ENSP00000423585.1:n.*471C>A
ENST00000506491.5:c.1341C>A	ENSP00000424828.1:p.Asn447Lys
ENST00000506873.5:n.1110C>A
ENST00000508657.5:c.1491C>A	ENSP00000422099.1:p.Asn497Lys
ENST00000509694.1:n.380C>A