Canonical Allele Identifier: CA413185490
Gene: CLCN5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49851209G>A (hg19) chrX:g.50086552G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50086552G>A , CM000685.2:g.50086552G>A GRCh38
NC_000023.10:g.49851209G>A , CM000685.1:g.49851209G>A GRCh37
NC_000023.9:g.49737949G>A NCBI36
NG_007159.3:g.168937G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376091.8:c.1239G>A MANE Select ENSP00000365259.3:p.Trp413Ter
ENST00000642383.1:c.489G>A ENSP00000496353.1:p.Trp163Ter
ENST00000642885.1:c.1029G>A ENSP00000496632.1:p.Trp343Ter
ENST00000643129.1:c.1526G>A
ENST00000646398.1:c.*414G>A ENSP00000495122.1:n.*414G>A
ENST00000307367.2:c.1029G>A ENSP00000304257.2:p.Trp343Ter
ENST00000376088.7:c.1239G>A ENSP00000365256.3:p.Trp413Ter
ENST00000376091.7:c.1239G>A ENSP00000365259.3:p.Trp413Ter
ENST00000376108.7:c.1029G>A ENSP00000365276.3:p.Trp343Ter
NM_000084.4:c.1029G>A NP_000075.1:p.Trp343Ter
NM_001127898.3:c.1239G>A NP_001121370.1:p.Trp413Ter
NM_001127899.3:c.1239G>A NP_001121371.1:p.Trp413Ter
NM_001282163.1:c.1089G>A NP_001269092.1:p.Trp363Ter
XM_011543888.1:c.1239G>A XP_011542190.1:p.Trp413Ter
XM_011543889.1:c.1029G>A XP_011542191.1:p.Trp343Ter
XM_017029257.1:c.1251G>A XP_016884746.1:p.Trp417Ter
XM_017029258.1:c.1251G>A XP_016884747.1:p.Trp417Ter
NM_001127898.4:c.1239G>A MANE Select NP_001121370.1:p.Trp413Ter
NM_000084.5:c.1029G>A NP_000075.1:p.Trp343Ter
NM_001127899.4:c.1239G>A NP_001121371.1:p.Trp413Ter
NM_001282163.2:c.1089G>A NP_001269092.1:p.Trp363Ter
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