Canonical Allele Identifier: CA379100778
Community Standard Title: NM_001909.5(CTSD):c.68+1G>A
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1763791C>T , CM000673.2:g.1763791C>T GRCh38
NC_000011.9:g.1785021C>T , CM000673.1:g.1785021C>T GRCh37
NC_000011.8:g.1741597C>T NCBI36
NG_008655.1:g.5202G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001909.5:c.68+1G>A MANE Select NP_001900.1:n.68+1G>A
ENST00000236671.7:c.68+1G>A MANE Select ENSP00000236671.2:n.68+1G>A
NM_001909.4:c.68+1G>A NP_001900.1:n.68+1G>A
ENST00000236671.6:c.68+1G>A ENSP00000236671.2:n.68+1G>A
ENST00000429746.2:c.-38+729G>A ENSP00000402586.2:n.-38+729G>A
ENST00000433655.5:c.68+1G>A ENSP00000404902.1:n.68+1G>A
ENST00000433655.6:c.68+1G>A ENSP00000404902.1:n.68+1G>A
ENST00000438213.6:c.68+1G>A ENSP00000415036.2:n.68+1G>A
ENST00000636397.1:c.68+1G>A ENSP00000489910.1:n.68+1G>A
ENST00000636571.1:c.68+1G>A ENSP00000490770.1:n.68+1G>A
ENST00000636615.1:c.68+1G>A ENSP00000490014.1:n.68+1G>A
ENST00000636843.1:c.68+1G>A ENSP00000490897.1:n.68+1G>A
ENST00000637381.2:n.174G>A
ENST00000637387.1:c.68+1G>A ENSP00000490598.1:n.68+1G>A
ENST00000637815.2:c.68+1G>A ENSP00000490344.1:n.68+1G>A
ENST00000637915.1:c.68+1G>A ENSP00000490471.1:n.68+1G>A
ENST00000678991.1:c.68+1G>A ENSP00000503019.1:n.68+1G>A