Canonical Allele Identifier: CA2642100038

Gene: KDSR

Linked Data

• gnomAD v4: 18-63362723-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63362723T>C , CM000680.2:g.63362723T>C	GRCh38
NC_000018.9:g.61029956T>C , CM000680.1:g.61029956T>C	GRCh37
NC_000018.8:g.59180936T>C	NCBI36
NG_028249.1:g.9551A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.198+56A>G	ENSP00000468203.2:n.198+56A>G
ENST00000644624.1:c.*137+56A>G	ENSP00000494878.1:n.*137+56A>G
ENST00000645214.2:c.198+56A>G MANE Select	ENSP00000494352.1:n.198+56A>G
ENST00000646205.1:c.*348+56A>G	ENSP00000496260.1:n.*348+56A>G
ENST00000326575.9:c.198+56A>G	ENSP00000312939.5:n.198+56A>G
ENST00000406396.7:c.198+56A>G	ENSP00000385083.2:n.198+56A>G
ENST00000585456.1:n.208+56A>G
ENST00000589530.5:n.283+56A>G
ENST00000592327.1:c.198+56A>G	ENSP00000467962.1:n.198+56A>G
NM_002035.2:c.198+56A>G	NP_002026.1:n.198+56A>G
XM_005266677.1:c.198+56A>G	XP_005266734.1:n.198+56A>G
XM_006722433.2:c.111+56A>G	XP_006722496.1:n.111+56A>G
NM_002035.4:c.198+56A>G MANE Select	NP_002026.1:n.198+56A>G
XM_005266677.3:c.198+56A>G	XP_005266734.1:n.198+56A>G
XM_017025690.2:c.-34+56A>G	XP_016881179.1:n.-34+56A>G