Canonical Allele Identifier: CA402632811

Gene: KDSR

Linked Data

• gnomAD v4: 18-63355499-T-A
• MyVariant Identifiers: chr18:g.61022732T>A (hg19) ; chr18:g.63355499T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63355499T>A , CM000680.2:g.63355499T>A	GRCh38
NC_000018.9:g.61022732T>A , CM000680.1:g.61022732T>A	GRCh37
NC_000018.8:g.59173712T>A	NCBI36
NG_028249.1:g.16775A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.320A>T	ENSP00000468203.2:p.Gln107Leu
ENST00000644624.1:c.*259A>T	ENSP00000494878.1:n.*259A>T
ENST00000645214.2:c.320A>T MANE Select	ENSP00000494352.1:p.Gln107Leu
ENST00000646205.1:c.*470A>T	ENSP00000496260.1:n.*470A>T
ENST00000326575.9:c.320A>T	ENSP00000312939.5:p.Gln107Leu
ENST00000406396.7:c.320A>T	ENSP00000385083.2:p.Gln107Leu
ENST00000585750.1:n.16A>T
ENST00000589530.5:n.405A>T
ENST00000591902.5:c.35A>T	ENSP00000468203.1:p.Gln12Leu
ENST00000592327.1:c.320A>T	ENSP00000467962.1:p.Gln107Leu
NM_002035.2:c.320A>T	NP_002026.1:p.Gln107Leu
XM_005266677.1:c.320A>T	XP_005266734.1:p.Gln107Leu
XM_006722433.2:c.233A>T	XP_006722496.1:p.Gln78Leu
NM_002035.4:c.320A>T MANE Select	NP_002026.1:p.Gln107Leu
XM_005266677.3:c.320A>T	XP_005266734.1:p.Gln107Leu
XM_017025690.2:c.89A>T	XP_016881179.1:p.Gln30Leu