Canonical Allele Identifier: CA361048015

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974722A>T (hg19) ; chr5:g.137639033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639033A>T , CM000667.2:g.137639033A>T	GRCh38
NC_000005.9:g.136974722A>T , CM000667.1:g.136974722A>T	GRCh37
NC_000005.8:g.137002621A>T	NCBI36
NG_032569.1:g.102058T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1139T>A MANE Select	ENSP00000312397.4:p.Met380Lys
ENST00000309755.8:c.1139T>A	ENSP00000312397.4:p.Met380Lys
ENST00000502381.1:n.726T>A
ENST00000504208.5:c.*335-10596T>A	ENSP00000423585.1:n.*335-10596T>A
ENST00000505853.1:c.1019T>A	ENSP00000426173.1:p.Met340Lys
ENST00000506491.5:c.893T>A	ENSP00000424828.1:p.Met298Lys
ENST00000506873.5:n.764T>A
ENST00000508657.5:c.1043T>A	ENSP00000422099.1:p.Met348Lys
NM_001257194.1:c.1043T>A	NP_001244123.1:p.Met348Lys
NM_001257195.1:c.893T>A	NP_001244124.1:p.Met298Lys
NM_017415.2:c.1139T>A	NP_059111.2:p.Met380Lys
NM_017415.3:c.1139T>A MANE Select	NP_059111.2:p.Met380Lys
NM_001257195.2:c.893T>A	NP_001244124.1:p.Met298Lys