Canonical Allele Identifier: CA402630947

Gene: KDSR

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63350940T>A , CM000680.2:g.63350940T>A	GRCh38
NC_000018.9:g.61018173T>A , CM000680.1:g.61018173T>A	GRCh37
NC_000018.8:g.59169153T>A	NCBI36
NG_028249.1:g.21334A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002035.4:c.557A>T MANE Select	NP_002026.1:p.Tyr186Phe
ENST00000645214.2:c.557A>T MANE Select	ENSP00000494352.1:p.Tyr186Phe
NM_002035.2:c.557A>T	NP_002026.1:p.Tyr186Phe
ENST00000326575.9:c.417+4264A>T	ENSP00000312939.5:n.417+4264A>T
ENST00000406396.7:c.557A>T	ENSP00000385083.2:p.Tyr186Phe
ENST00000585750.1:n.251A>T
ENST00000591902.5:c.272A>T	ENSP00000468203.1:p.Tyr91Phe
ENST00000591902.6:c.557A>T	ENSP00000468203.2:p.Tyr186Phe
ENST00000644624.1:c.*496A>T	ENSP00000494878.1:n.*496A>T
ENST00000646205.1:c.*707A>T	ENSP00000496260.1:n.*707A>T
XM_005266677.1:c.557A>T	XP_005266734.1:p.Tyr186Phe
XM_005266677.3:c.557A>T	XP_005266734.1:p.Tyr186Phe
XM_006722433.2:c.470A>T	XP_006722496.1:p.Tyr157Phe
XM_017025690.2:c.326A>T	XP_016881179.1:p.Tyr109Phe