Canonical Allele Identifier: CA402633767

Gene: KDSR

Linked Data

• MyVariant Identifiers: chr18:g.61030048T>G (hg19) ; chr18:g.63362815T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63362815T>G , CM000680.2:g.63362815T>G	GRCh38
NC_000018.9:g.61030048T>G , CM000680.1:g.61030048T>G	GRCh37
NC_000018.8:g.59181028T>G	NCBI36
NG_028249.1:g.9459A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.162A>C	ENSP00000468203.2:p.Lys54Asn
ENST00000644624.1:c.*101A>C	ENSP00000494878.1:n.*101A>C
ENST00000645214.2:c.162A>C MANE Select	ENSP00000494352.1:p.Lys54Asn
ENST00000646205.1:c.*312A>C	ENSP00000496260.1:n.*312A>C
ENST00000326575.9:c.162A>C	ENSP00000312939.5:p.Lys54Asn
ENST00000406396.7:c.162A>C	ENSP00000385083.2:p.Lys54Asn
ENST00000585456.1:n.172A>C
ENST00000589530.5:n.247A>C
ENST00000592327.1:c.162A>C	ENSP00000467962.1:p.Lys54Asn
NM_002035.2:c.162A>C	NP_002026.1:p.Lys54Asn
XM_005266677.1:c.162A>C	XP_005266734.1:p.Lys54Asn
XM_006722433.2:c.75A>C	XP_006722496.1:p.Lys25Asn
NM_002035.4:c.162A>C MANE Select	NP_002026.1:p.Lys54Asn
XM_005266677.3:c.162A>C	XP_005266734.1:p.Lys54Asn
XM_017025690.2:c.-70A>C	XP_016881179.1:n.-70A>C