Canonical Allele Identifier: CA2647836403

Gene: CTSK

Linked Data

• ClinVar Variation Id: 2955235
• ClinVar RCV Id: RCV003818410
• gnomAD v4: 1-150806668-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806668C>A , CM000663.2:g.150806668C>A	GRCh38
NC_000001.10:g.150779144C>A , CM000663.1:g.150779144C>A	GRCh37
NC_000001.9:g.149045768C>A	NCBI36
NG_011848.1:g.6669G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.120+18G>T MANE Select	ENSP00000271651.3:n.120+18G>T
ENST00000443913.2:c.297+18G>T	ENSP00000405083.2:n.297+18G>T
ENST00000480670.2:n.2746G>T
ENST00000676680.1:c.120+18G>T	ENSP00000503270.1:n.120+18G>T
ENST00000676716.1:c.120+18G>T	ENSP00000504737.1:n.120+18G>T
ENST00000676751.1:c.120+18G>T	ENSP00000502964.1:n.120+18G>T
ENST00000676824.1:c.120+18G>T	ENSP00000504176.1:n.120+18G>T
ENST00000676966.1:c.120+18G>T	ENSP00000503723.1:n.120+18G>T
ENST00000676970.1:c.120+18G>T	ENSP00000503832.1:n.120+18G>T
ENST00000677330.1:n.1503G>T
ENST00000677887.1:c.162+18G>T	ENSP00000503876.1:n.162+18G>T
ENST00000678275.1:c.120+18G>T	ENSP00000504796.1:n.120+18G>T
ENST00000678337.1:c.156+18G>T	ENSP00000504759.1:n.156+18G>T
ENST00000678725.1:n.1097+18G>T
ENST00000679090.1:n.262G>T
ENST00000679148.1:n.1018G>T
ENST00000679171.1:n.2038G>T
ENST00000679260.1:c.120+18G>T	ENSP00000504534.1:n.120+18G>T
ENST00000271651.7:c.120+18G>T	ENSP00000271651.3:n.120+18G>T
ENST00000443913.1:c.297+18G>T	ENSP00000405083.1:n.297+18G>T
ENST00000480670.1:n.83+18G>T
NM_000396.3:c.120+18G>T	NP_000387.1:n.120+18G>T
NM_000396.4:c.120+18G>T MANE Select	NP_000387.1:n.120+18G>T