Canonical Allele Identifier: CA363966112
Gene: CLIC5 HGNC NCBI

Linked Data

gnomAD v4: 6-45955185-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45955185G>C , CM000668.2:g.45955185G>C GRCh38
NC_000006.11:g.45922922G>C , CM000668.1:g.45922922G>C GRCh37
NC_000006.10:g.46030900G>C NCBI36
NG_031965.1:g.130164C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000185206.12:c.600C>G ENSP00000185206.6:p.Ile200Met
ENST00000339561.12:c.123C>G MANE Select ENSP00000344165.6:p.Ile41Met
ENST00000544153.3:c.123C>G ENSP00000439195.1:p.Ile41Met
ENST00000642250.1:c.123C>G ENSP00000496359.1:p.Ile41Met
ENST00000644324.1:c.123C>G ENSP00000495186.1:p.Ile41Met
ENST00000644878.1:c.123C>G ENSP00000493894.1:p.Ile41Met
ENST00000672327.1:c.123C>G ENSP00000500472.1:p.Ile41Met
ENST00000185206.10:c.600C>G ENSP00000185206.6:p.Ile200Met
ENST00000339561.10:c.123C>G ENSP00000344165.6:p.Ile41Met
ENST00000544153.2:c.123C>G ENSP00000439195.1:p.Ile41Met
NM_001114086.1:c.600C>G NP_001107558.1:p.Ile200Met
NM_001256023.1:c.123C>G NP_001242952.1:p.Ile41Met
NM_016929.4:c.123C>G NP_058625.2:p.Ile41Met
XM_011514692.1:c.600C>G XP_011512994.1:p.Ile200Met
XM_011514693.1:c.600C>G XP_011512995.1:p.Ile200Met
XM_011514694.1:c.600C>G XP_011512996.1:p.Ile200Met
XM_011514695.1:c.6C>G XP_011512997.1:p.Ile2Met
XR_926257.1:n.645C>G
XR_926258.1:n.645C>G
XR_926259.1:n.645C>G
XM_011514692.3:c.600C>G XP_011512994.1:p.Ile200Met
XM_011514694.3:c.600C>G XP_011512996.1:p.Ile200Met
XM_017010953.1:c.600C>G XP_016866442.1:p.Ile200Met
XR_926258.3:n.713C>G
NM_001114086.2:c.600C>G NP_001107558.1:p.Ile200Met
NM_001370649.1:c.6C>G NP_001357578.1:p.Ile2Met
NM_001370650.1:c.600C>G NP_001357579.1:p.Ile200Met
NM_016929.5:c.123C>G MANE Select NP_058625.2:p.Ile41Met
NM_001256023.2:c.123C>G NP_001242952.1:p.Ile41Met