Canonical Allele Identifier: CA8986147

Gene: KDSR

Linked Data

• dbSNP Id: rs780045594
• ExAC: 18:61022806 A / G
• gnomAD v2: 18-61022806-A-G
• gnomAD v3: 18-63355573-A-G
• gnomAD v4: 18-63355573-A-G
• MyVariant Identifiers: chr18:g.61022806A>G (hg19) ; chr18:g.63355573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63355573A>G , CM000680.2:g.63355573A>G	GRCh38
NC_000018.9:g.61022806A>G , CM000680.1:g.61022806A>G	GRCh37
NC_000018.8:g.59173786A>G	NCBI36
NG_028249.1:g.16701T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.256-10T>C	ENSP00000468203.2:n.256-10T>C
ENST00000644624.1:c.*195-10T>C	ENSP00000494878.1:n.*195-10T>C
ENST00000645214.2:c.256-10T>C MANE Select	ENSP00000494352.1:n.256-10T>C
ENST00000646205.1:c.*406-10T>C	ENSP00000496260.1:n.*406-10T>C
ENST00000326575.9:c.256-10T>C	ENSP00000312939.5:n.256-10T>C
ENST00000406396.7:c.256-10T>C	ENSP00000385083.2:n.256-10T>C
ENST00000589530.5:n.341-10T>C
ENST00000592327.1:c.256-10T>C	ENSP00000467962.1:n.256-10T>C
NM_002035.2:c.256-10T>C	NP_002026.1:n.256-10T>C
XM_005266677.1:c.256-10T>C	XP_005266734.1:n.256-10T>C
XM_006722433.2:c.169-10T>C	XP_006722496.1:n.169-10T>C
NM_002035.4:c.256-10T>C MANE Select	NP_002026.1:n.256-10T>C
XM_005266677.3:c.256-10T>C	XP_005266734.1:n.256-10T>C
XM_017025690.2:c.25-10T>C	XP_016881179.1:n.25-10T>C