Canonical Allele Identifier: CA5814332

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1763823G>A , CM000673.2:g.1763823G>A	GRCh38
NC_000011.9:g.1785053G>A , CM000673.1:g.1785053G>A	GRCh37
NC_000011.8:g.1741629G>A	NCBI36
NG_008655.1:g.5170C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.37C>T MANE Select	NP_001900.1:p.Leu13=
ENST00000236671.7:c.37C>T MANE Select	ENSP00000236671.2:p.Leu13=
NM_001909.4:c.37C>T	NP_001900.1:p.Leu13=
ENST00000236671.6:c.37C>T	ENSP00000236671.2:p.Leu13=
ENST00000429746.2:c.-38+697C>T	ENSP00000402586.2:n.-38+697C>T
ENST00000433655.5:c.37C>T	ENSP00000404902.1:p.Leu13=
ENST00000433655.6:c.37C>T	ENSP00000404902.1:p.Leu13=
ENST00000438213.6:c.37C>T	ENSP00000415036.2:p.Leu13=
ENST00000636397.1:c.37C>T	ENSP00000489910.1:p.Leu13=
ENST00000636571.1:c.37C>T	ENSP00000490770.1:p.Leu13=
ENST00000636615.1:c.37C>T	ENSP00000490014.1:p.Leu13=
ENST00000636843.1:c.37C>T	ENSP00000490897.1:p.Leu13=
ENST00000637381.2:n.142C>T
ENST00000637387.1:c.37C>T	ENSP00000490598.1:p.Leu13=
ENST00000637815.2:c.37C>T	ENSP00000490344.1:p.Leu13=
ENST00000637915.1:c.37C>T	ENSP00000490471.1:p.Leu13=
ENST00000678991.1:c.37C>T	ENSP00000503019.1:p.Leu13=