Canonical Allele Identifier: CA402632822

Gene: KDSR

Linked Data

• MyVariant Identifiers: chr18:g.61022734T>A (hg19) ; chr18:g.63355501T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63355501T>A , CM000680.2:g.63355501T>A	GRCh38
NC_000018.9:g.61022734T>A , CM000680.1:g.61022734T>A	GRCh37
NC_000018.8:g.59173714T>A	NCBI36
NG_028249.1:g.16773A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.318A>T	ENSP00000468203.2:p.Lys106Asn
ENST00000644624.1:c.*257A>T	ENSP00000494878.1:n.*257A>T
ENST00000645214.2:c.318A>T MANE Select	ENSP00000494352.1:p.Lys106Asn
ENST00000646205.1:c.*468A>T	ENSP00000496260.1:n.*468A>T
ENST00000326575.9:c.318A>T	ENSP00000312939.5:p.Lys106Asn
ENST00000406396.7:c.318A>T	ENSP00000385083.2:p.Lys106Asn
ENST00000585750.1:n.14A>T
ENST00000589530.5:n.403A>T
ENST00000591902.5:c.33A>T	ENSP00000468203.1:p.Lys11Asn
ENST00000592327.1:c.318A>T	ENSP00000467962.1:p.Lys106Asn
NM_002035.2:c.318A>T	NP_002026.1:p.Lys106Asn
XM_005266677.1:c.318A>T	XP_005266734.1:p.Lys106Asn
XM_006722433.2:c.231A>T	XP_006722496.1:p.Lys77Asn
NM_002035.4:c.318A>T MANE Select	NP_002026.1:p.Lys106Asn
XM_005266677.3:c.318A>T	XP_005266734.1:p.Lys106Asn
XM_017025690.2:c.87A>T	XP_016881179.1:p.Lys29Asn