Canonical Allele Identifier: CA379093500

Gene: CTSD

Linked Data

• dbSNP Id: rs761766384
• gnomAD v4: 11-1753998-C-G
• MyVariant Identifiers: chr11:g.1775228C>G (hg19) ; chr11:g.1753998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753998C>G , CM000673.2:g.1753998C>G	GRCh38
NC_000011.9:g.1775228C>G , CM000673.1:g.1775228C>G	GRCh37
NC_000011.8:g.1731804C>G	NCBI36
NG_008655.1:g.14995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.968G>C MANE Select	ENSP00000236671.2:p.Gly323Ala
ENST00000367196.4:c.863G>C	ENSP00000356164.4:p.Gly288Ala
ENST00000427721.3:c.393G>C
ENST00000429746.2:c.863G>C	ENSP00000402586.2:p.Gly288Ala
ENST00000433655.6:c.*134G>C	ENSP00000404902.1:n.*134G>C
ENST00000438213.6:c.1085G>C	ENSP00000415036.2:p.Gly362Ala
ENST00000497544.3:n.584G>C
ENST00000636397.1:c.968G>C	ENSP00000489910.1:p.Gly323Ala
ENST00000636571.1:c.947G>C	ENSP00000490770.1:p.Gly316Ala
ENST00000636615.1:c.968G>C	ENSP00000490014.1:p.Gly323Ala
ENST00000636843.1:c.962G>C	ENSP00000490897.1:p.Gly321Ala
ENST00000637158.1:n.566G>C
ENST00000637381.2:n.3396G>C
ENST00000637387.1:c.968G>C	ENSP00000490598.1:p.Gly323Ala
ENST00000637815.2:c.950G>C	ENSP00000490344.1:p.Gly317Ala
ENST00000637915.1:c.968G>C	ENSP00000490471.1:p.Gly323Ala
ENST00000637937.1:n.276G>C
ENST00000678991.1:c.*829G>C	ENSP00000503019.1:n.*829G>C
ENST00000236671.6:c.968G>C	ENSP00000236671.2:p.Gly323Ala
ENST00000427721.2:c.368G>C	ENSP00000415840.2:p.Gly123Ala
ENST00000429746.1:c.299G>C	ENSP00000402586.1:p.Gly100Ala
ENST00000433655.5:c.*134G>C	ENSP00000404902.1:n.*134G>C
ENST00000497544.1:n.584G>C
NM_001909.4:c.968G>C	NP_001900.1:p.Gly323Ala
NM_001909.5:c.968G>C MANE Select	NP_001900.1:p.Gly323Ala