Canonical Allele Identifier: CA361048632

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136975559T>G (hg19) ; chr5:g.137639870T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639870T>G , CM000667.2:g.137639870T>G	GRCh38
NC_000005.9:g.136975559T>G , CM000667.1:g.136975559T>G	GRCh37
NC_000005.8:g.137003458T>G	NCBI36
NG_032569.1:g.101221A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.1011A>C MANE Select	ENSP00000312397.4:p.Arg337Ser
ENST00000309755.8:c.1011A>C	ENSP00000312397.4:p.Arg337Ser
ENST00000502381.1:n.598A>C
ENST00000504208.5:c.*335-11433A>C	ENSP00000423585.1:n.*335-11433A>C
ENST00000505853.1:c.891A>C	ENSP00000426173.1:p.Arg297Ser
ENST00000506491.5:c.765A>C	ENSP00000424828.1:p.Arg255Ser
ENST00000506873.5:n.636A>C
ENST00000508657.5:c.915A>C	ENSP00000422099.1:p.Arg305Ser
NM_001257194.1:c.915A>C	NP_001244123.1:p.Arg305Ser
NM_001257195.1:c.765A>C	NP_001244124.1:p.Arg255Ser
NM_017415.2:c.1011A>C	NP_059111.2:p.Arg337Ser
NM_017415.3:c.1011A>C MANE Select	NP_059111.2:p.Arg337Ser
NM_001257195.2:c.765A>C	NP_001244124.1:p.Arg255Ser