Canonical Allele Identifier: CA2615475568

Gene: CTSC

Linked Data

• gnomAD v4: 11-88309034-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88309034C>A , CM000673.2:g.88309034C>A	GRCh38
NC_000011.9:g.88042202C>A , CM000673.1:g.88042202C>A	GRCh37
NC_000011.8:g.87681850C>A	NCBI36
NG_007952.1:g.33740G>T , LRG_50:g.33740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.641+129G>T MANE Select	ENSP00000227266.4:n.641+129G>T
ENST00000527018.6:c.641+129G>T	ENSP00000432556.2:n.641+129G>T
ENST00000533897.2:n.689+129G>T
ENST00000676612.1:c.*448+129G>T	ENSP00000504440.1:n.*448+129G>T
ENST00000677208.1:c.*147+129G>T	ENSP00000504347.1:n.*147+129G>T
ENST00000677661.1:c.*318+129G>T	ENSP00000503323.1:n.*318+129G>T
ENST00000677802.1:c.*318+129G>T	ENSP00000504115.1:n.*318+129G>T
ENST00000678065.1:n.201+129G>T
ENST00000678395.1:c.*147+129G>T	ENSP00000503123.1:n.*147+129G>T
ENST00000678464.1:c.641+129G>T	ENSP00000503046.1:n.641+129G>T
ENST00000678506.1:c.602+129G>T	ENSP00000503580.1:n.602+129G>T
ENST00000678520.1:c.*292+3354G>T	ENSP00000503361.1:n.*292+3354G>T
ENST00000678554.1:c.641+129G>T	ENSP00000504541.1:n.641+129G>T
ENST00000678915.1:c.641+129G>T	ENSP00000504805.1:n.641+129G>T
ENST00000679224.1:c.278+129G>T	ENSP00000504475.1:n.278+129G>T
ENST00000227266.9:c.641+129G>T	ENSP00000227266.4:n.641+129G>T
ENST00000527018.5:c.511+129G>T
NM_001814.4:c.641+129G>T , LRG_50t1:c.641+129G>T	NP_001805.3:n.641+129G>T
NM_001814.5:c.641+129G>T	NP_001805.3:n.641+129G>T
NM_001814.6:c.641+129G>T MANE Select	NP_001805.4:n.641+129G>T