Canonical Allele Identifier: CA361045723

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964099T>A (hg19) ; chr5:g.137628410T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628410T>A , CM000667.2:g.137628410T>A	GRCh38
NC_000005.9:g.136964099T>A , CM000667.1:g.136964099T>A	GRCh37
NC_000005.8:g.136991998T>A	NCBI36
NG_032569.1:g.112681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1478A>T MANE Select	ENSP00000312397.4:p.Tyr493Phe
ENST00000309755.8:c.1478A>T	ENSP00000312397.4:p.Tyr493Phe
ENST00000447439.6:n.1534A>T
ENST00000504208.5:c.*362A>T	ENSP00000423585.1:n.*362A>T
ENST00000506491.5:c.1232A>T	ENSP00000424828.1:p.Tyr411Phe
ENST00000506873.5:n.1001A>T
ENST00000508657.5:c.1382A>T	ENSP00000422099.1:p.Tyr461Phe
ENST00000509694.1:n.271A>T
NM_001257194.1:c.1382A>T	NP_001244123.1:p.Tyr461Phe
NM_001257195.1:c.1232A>T	NP_001244124.1:p.Tyr411Phe
NM_017415.2:c.1478A>T	NP_059111.2:p.Tyr493Phe
NM_017415.3:c.1478A>T MANE Select	NP_059111.2:p.Tyr493Phe
NM_001257195.2:c.1232A>T	NP_001244124.1:p.Tyr411Phe