Canonical Allele Identifier: CA2308734773

Gene: KDSR

Linked Data

• dbSNP Id: rs1914769688
• gnomAD v4: 18-63355481-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63355481T>G , CM000680.2:g.63355481T>G	GRCh38
NC_000018.9:g.61022714T>G , CM000680.1:g.61022714T>G	GRCh37
NC_000018.8:g.59173694T>G	NCBI36
NG_028249.1:g.16793A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.321+17A>C	ENSP00000468203.2:n.321+17A>C
ENST00000644624.1:c.*260+17A>C	ENSP00000494878.1:n.*260+17A>C
ENST00000645214.2:c.321+17A>C MANE Select	ENSP00000494352.1:n.321+17A>C
ENST00000646205.1:c.*471+17A>C	ENSP00000496260.1:n.*471+17A>C
ENST00000326575.9:c.321+17A>C	ENSP00000312939.5:n.321+17A>C
ENST00000406396.7:c.321+17A>C	ENSP00000385083.2:n.321+17A>C
ENST00000585750.1:n.17+17A>C
ENST00000589530.5:n.423A>C
ENST00000591902.5:c.36+17A>C	ENSP00000468203.1:n.36+17A>C
ENST00000592327.1:c.321+17A>C	ENSP00000467962.1:n.321+17A>C
NM_002035.2:c.321+17A>C	NP_002026.1:n.321+17A>C
XM_005266677.1:c.321+17A>C	XP_005266734.1:n.321+17A>C
XM_006722433.2:c.234+17A>C	XP_006722496.1:n.234+17A>C
NM_002035.4:c.321+17A>C MANE Select	NP_002026.1:n.321+17A>C
XM_005266677.3:c.321+17A>C	XP_005266734.1:n.321+17A>C
XM_017025690.2:c.90+17A>C	XP_016881179.1:n.90+17A>C