Canonical Allele Identifier: CA2642099544

Gene: KDSR

Linked Data

• gnomAD v4: 18-63355585-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63355585G>T , CM000680.2:g.63355585G>T	GRCh38
NC_000018.9:g.61022818G>T , CM000680.1:g.61022818G>T	GRCh37
NC_000018.8:g.59173798G>T	NCBI36
NG_028249.1:g.16689C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.256-22C>A	ENSP00000468203.2:n.256-22C>A
ENST00000644624.1:c.*195-22C>A	ENSP00000494878.1:n.*195-22C>A
ENST00000645214.2:c.256-22C>A MANE Select	ENSP00000494352.1:n.256-22C>A
ENST00000646205.1:c.*406-22C>A	ENSP00000496260.1:n.*406-22C>A
ENST00000326575.9:c.256-22C>A	ENSP00000312939.5:n.256-22C>A
ENST00000406396.7:c.256-22C>A	ENSP00000385083.2:n.256-22C>A
ENST00000589530.5:n.341-22C>A
ENST00000592327.1:c.256-22C>A	ENSP00000467962.1:n.256-22C>A
NM_002035.2:c.256-22C>A	NP_002026.1:n.256-22C>A
XM_005266677.1:c.256-22C>A	XP_005266734.1:n.256-22C>A
XM_006722433.2:c.169-22C>A	XP_006722496.1:n.169-22C>A
NM_002035.4:c.256-22C>A MANE Select	NP_002026.1:n.256-22C>A
XM_005266677.3:c.256-22C>A	XP_005266734.1:n.256-22C>A
XM_017025690.2:c.25-22C>A	XP_016881179.1:n.25-22C>A