Canonical Allele Identifier: CA413190739

Gene: CLCN5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50090723A>G , CM000685.2:g.50090723A>G	GRCh38
NC_000023.10:g.49855380A>G , CM000685.1:g.49855380A>G	GRCh37
NC_000023.9:g.49742120A>G	NCBI36
NG_007159.3:g.173108A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127898.4:c.2197A>G MANE Select	NP_001121370.1:p.Thr733Ala
ENST00000376091.8:c.2197A>G MANE Select	ENSP00000365259.3:p.Thr733Ala
NM_000084.4:c.1987A>G	NP_000075.1:p.Thr663Ala
NM_000084.5:c.1987A>G	NP_000075.1:p.Thr663Ala
NM_001127898.3:c.2197A>G	NP_001121370.1:p.Thr733Ala
NM_001127899.3:c.2197A>G	NP_001121371.1:p.Thr733Ala
NM_001127899.4:c.2197A>G	NP_001121371.1:p.Thr733Ala
NM_001282163.1:c.2047A>G	NP_001269092.1:p.Thr683Ala
NM_001282163.2:c.2047A>G	NP_001269092.1:p.Thr683Ala
ENST00000307367.2:c.1987A>G	ENSP00000304257.2:p.Thr663Ala
ENST00000376088.7:c.2197A>G	ENSP00000365256.3:p.Thr733Ala
ENST00000376091.7:c.2197A>G	ENSP00000365259.3:p.Thr733Ala
ENST00000376108.7:c.1987A>G	ENSP00000365276.3:p.Thr663Ala
ENST00000642383.1:c.1519A>G	ENSP00000496353.1:p.Thr507Ala
ENST00000642885.1:c.1987A>G	ENSP00000496632.1:p.Thr663Ala
ENST00000643129.1:c.2484A>G
ENST00000646398.1:c.*1372A>G	ENSP00000495122.1:n.*1372A>G
XM_011543888.1:c.2269A>G	XP_011542190.1:p.Thr757Ala
XM_011543889.1:c.2059A>G	XP_011542191.1:p.Thr687Ala
XM_017029257.1:c.2209A>G	XP_016884746.1:p.Thr737Ala
XM_017029258.1:c.2209A>G	XP_016884747.1:p.Thr737Ala