Canonical Allele Identifier: CA5814287

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2009997
• ClinVar RCV Id: RCV002850932
• dbSNP Id: rs762631372
• ExAC: 11:1782652 C / G
• gnomAD v2: 11-1782652-C-G
• gnomAD v4: 11-1761422-C-G
• MyVariant Identifiers: chr11:g.1782652C>G (hg19) ; chr11:g.1761422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1761422C>G , CM000673.2:g.1761422C>G	GRCh38
NC_000011.9:g.1782652C>G , CM000673.1:g.1782652C>G	GRCh37
NC_000011.8:g.1739228C>G	NCBI36
NG_008655.1:g.7571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.115G>C MANE Select	ENSP00000236671.2:p.Val39Leu
ENST00000367196.4:c.10G>C	ENSP00000356164.4:p.Val4Leu
ENST00000429746.2:c.10G>C	ENSP00000402586.2:p.Val4Leu
ENST00000433655.6:c.115G>C	ENSP00000404902.1:p.Val39Leu
ENST00000438213.6:c.115G>C	ENSP00000415036.2:p.Val39Leu
ENST00000636397.1:c.115G>C	ENSP00000489910.1:p.Val39Leu
ENST00000636571.1:c.115G>C	ENSP00000490770.1:p.Val39Leu
ENST00000636615.1:c.115G>C	ENSP00000490014.1:p.Val39Leu
ENST00000636843.1:c.115G>C	ENSP00000490897.1:p.Val39Leu
ENST00000637381.2:n.2543G>C
ENST00000637387.1:c.115G>C	ENSP00000490598.1:p.Val39Leu
ENST00000637815.2:c.115G>C	ENSP00000490344.1:p.Val39Leu
ENST00000637915.1:c.115G>C	ENSP00000490471.1:p.Val39Leu
ENST00000678991.1:c.258G>C	ENSP00000503019.1:p.Arg86Ser
ENST00000236671.6:c.115G>C	ENSP00000236671.2:p.Val39Leu
ENST00000367196.3:c.10G>C	ENSP00000356164.3:p.Val4Leu
ENST00000433655.5:c.115G>C	ENSP00000404902.1:p.Val39Leu
ENST00000438213.5:c.70G>C	ENSP00000415036.1:p.Val24Leu
NM_001909.4:c.115G>C	NP_001900.1:p.Val39Leu
NM_001909.5:c.115G>C MANE Select	NP_001900.1:p.Val39Leu