Canonical Allele Identifier: CA9512141

Gene: KLC3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45347952G>A , CM000681.2:g.45347952G>A	GRCh38
NC_000019.9:g.45851210G>A , CM000681.1:g.45851210G>A	GRCh37
NC_000019.8:g.50543050G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_177417.3:c.571G>A MANE Select	NP_803136.2:p.Ala191Thr
ENST00000391946.7:c.571G>A MANE Select	ENSP00000375810.2:p.Ala191Thr
NM_177417.2:c.571G>A	NP_803136.2:p.Ala191Thr
ENST00000391946.6:c.571G>A	ENSP00000375810.2:p.Ala191Thr
ENST00000470402.1:c.613G>A	ENSP00000436019.1:p.Ala205Thr
ENST00000585434.5:c.568G>A	ENSP00000466067.1:p.Ala190Thr
ENST00000589373.5:c.571G>A	ENSP00000465950.1:p.Ala191Thr
ENST00000589837.5:c.523G>A	ENSP00000466974.1:p.Ala175Thr
XM_005258536.3:c.571G>A	XP_005258593.1:p.Ala191Thr
XM_024451369.1:c.724G>A	XP_024307137.1:p.Ala242Thr
XM_024451370.1:c.571G>A	XP_024307138.1:p.Ala191Thr
XM_024451371.1:c.724G>A	XP_024307139.1:p.Ala242Thr