Canonical Allele Identifier: CA361048672

Gene: KLHL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639881G>A , CM000667.2:g.137639881G>A	GRCh38
NC_000005.9:g.136975570G>A , CM000667.1:g.136975570G>A	GRCh37
NC_000005.8:g.137003469G>A	NCBI36
NG_032569.1:g.101210C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017415.3:c.1000C>T MANE Select	NP_059111.2:p.Pro334Ser
ENST00000309755.9:c.1000C>T MANE Select	ENSP00000312397.4:p.Pro334Ser
NM_001257194.1:c.904C>T	NP_001244123.1:p.Pro302Ser
NM_001257195.1:c.754C>T	NP_001244124.1:p.Pro252Ser
NM_001257195.2:c.754C>T	NP_001244124.1:p.Pro252Ser
NM_017415.2:c.1000C>T	NP_059111.2:p.Pro334Ser
ENST00000309755.8:c.1000C>T	ENSP00000312397.4:p.Pro334Ser
ENST00000502381.1:n.587C>T
ENST00000504208.5:c.*335-11444C>T	ENSP00000423585.1:n.*335-11444C>T
ENST00000505853.1:c.880C>T	ENSP00000426173.1:p.Pro294Ser
ENST00000506491.5:c.754C>T	ENSP00000424828.1:p.Pro252Ser
ENST00000506873.5:n.625C>T
ENST00000508657.5:c.904C>T	ENSP00000422099.1:p.Pro302Ser