Canonical Allele Identifier: CA413185315
Gene: CLCN5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50086470T>A , CM000685.2:g.50086470T>A GRCh38
NC_000023.10:g.49851127T>A , CM000685.1:g.49851127T>A GRCh37
NC_000023.9:g.49737867T>A NCBI36
NG_007159.3:g.168855T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376091.8:c.1157T>A MANE Select ENSP00000365259.3:p.Leu386His
ENST00000642383.1:c.407T>A ENSP00000496353.1:p.Leu136His
ENST00000642885.1:c.947T>A ENSP00000496632.1:p.Leu316His
ENST00000643129.1:c.1444T>A
ENST00000646398.1:c.*332T>A ENSP00000495122.1:n.*332T>A
ENST00000307367.2:c.947T>A ENSP00000304257.2:p.Leu316His
ENST00000376088.7:c.1157T>A ENSP00000365256.3:p.Leu386His
ENST00000376091.7:c.1157T>A ENSP00000365259.3:p.Leu386His
ENST00000376108.7:c.947T>A ENSP00000365276.3:p.Leu316His
NM_000084.4:c.947T>A NP_000075.1:p.Leu316His
NM_001127898.3:c.1157T>A NP_001121370.1:p.Leu386His
NM_001127899.3:c.1157T>A NP_001121371.1:p.Leu386His
NM_001282163.1:c.1007T>A NP_001269092.1:p.Leu336His
XM_011543888.1:c.1157T>A XP_011542190.1:p.Leu386His
XM_011543889.1:c.947T>A XP_011542191.1:p.Leu316His
XM_017029257.1:c.1169T>A XP_016884746.1:p.Leu390His
XM_017029258.1:c.1169T>A XP_016884747.1:p.Leu390His
NM_001127898.4:c.1157T>A MANE Select NP_001121370.1:p.Leu386His
NM_000084.5:c.947T>A NP_000075.1:p.Leu316His
NM_001127899.4:c.1157T>A NP_001121371.1:p.Leu386His
NM_001282163.2:c.1007T>A NP_001269092.1:p.Leu336His