Canonical Allele Identifier: CA379093763

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754043-A-G
• MyVariant Identifiers: chr11:g.1775273A>G (hg19) ; chr11:g.1754043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754043A>G , CM000673.2:g.1754043A>G	GRCh38
NC_000011.9:g.1775273A>G , CM000673.1:g.1775273A>G	GRCh37
NC_000011.8:g.1731849A>G	NCBI36
NG_008655.1:g.14950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.923T>C MANE Select	ENSP00000236671.2:p.Val308Ala
ENST00000367196.4:c.818T>C	ENSP00000356164.4:p.Val273Ala
ENST00000427721.3:c.348T>C
ENST00000429746.2:c.818T>C	ENSP00000402586.2:p.Val273Ala
ENST00000433655.6:c.*89T>C	ENSP00000404902.1:n.*89T>C
ENST00000438213.6:c.1040T>C	ENSP00000415036.2:p.Val347Ala
ENST00000497544.3:n.539T>C
ENST00000636397.1:c.923T>C	ENSP00000489910.1:p.Val308Ala
ENST00000636571.1:c.902T>C	ENSP00000490770.1:p.Val301Ala
ENST00000636615.1:c.923T>C	ENSP00000490014.1:p.Val308Ala
ENST00000636843.1:c.917T>C	ENSP00000490897.1:p.Val306Ala
ENST00000637158.1:n.521T>C
ENST00000637381.2:n.3351T>C
ENST00000637387.1:c.923T>C	ENSP00000490598.1:p.Val308Ala
ENST00000637815.2:c.905T>C	ENSP00000490344.1:p.Val302Ala
ENST00000637915.1:c.923T>C	ENSP00000490471.1:p.Val308Ala
ENST00000637937.1:n.231T>C
ENST00000678991.1:c.*784T>C	ENSP00000503019.1:n.*784T>C
ENST00000236671.6:c.923T>C	ENSP00000236671.2:p.Val308Ala
ENST00000427721.2:c.323T>C	ENSP00000415840.2:p.Val108Ala
ENST00000429746.1:c.254T>C	ENSP00000402586.1:p.Val85Ala
ENST00000433655.5:c.*89T>C	ENSP00000404902.1:n.*89T>C
ENST00000438213.5:c.878T>C	ENSP00000415036.1:p.Val293Ala
ENST00000497544.1:n.539T>C
NM_001909.4:c.923T>C	NP_001900.1:p.Val308Ala
NM_001909.5:c.923T>C MANE Select	NP_001900.1:p.Val308Ala