Canonical Allele Identifier: CA413185937

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 591443
• ClinVar RCV Id: RCV000722622
• dbSNP Id: rs1569540368
• gnomAD v4: X-50086695-A-C
• MyVariant Identifiers: chrX:g.49851352A>C (hg19) ; chrX:g.50086695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086695A>C , CM000685.2:g.50086695A>C	GRCh38
NC_000023.10:g.49851352A>C , CM000685.1:g.49851352A>C	GRCh37
NC_000023.9:g.49738092A>C	NCBI36
NG_007159.3:g.169080A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1382A>C MANE Select	ENSP00000365259.3:p.Asp461Ala
ENST00000642383.1:c.632A>C	ENSP00000496353.1:p.Asp211Ala
ENST00000642885.1:c.1172A>C	ENSP00000496632.1:p.Asp391Ala
ENST00000643129.1:c.1669A>C
ENST00000646398.1:c.*557A>C	ENSP00000495122.1:n.*557A>C
ENST00000307367.2:c.1172A>C	ENSP00000304257.2:p.Asp391Ala
ENST00000376088.7:c.1382A>C	ENSP00000365256.3:p.Asp461Ala
ENST00000376091.7:c.1382A>C	ENSP00000365259.3:p.Asp461Ala
ENST00000376108.7:c.1172A>C	ENSP00000365276.3:p.Asp391Ala
NM_000084.4:c.1172A>C	NP_000075.1:p.Asp391Ala
NM_001127898.3:c.1382A>C	NP_001121370.1:p.Asp461Ala
NM_001127899.3:c.1382A>C	NP_001121371.1:p.Asp461Ala
NM_001282163.1:c.1232A>C	NP_001269092.1:p.Asp411Ala
XM_011543888.1:c.1382A>C	XP_011542190.1:p.Asp461Ala
XM_011543889.1:c.1172A>C	XP_011542191.1:p.Asp391Ala
XM_017029257.1:c.1394A>C	XP_016884746.1:p.Asp465Ala
XM_017029258.1:c.1394A>C	XP_016884747.1:p.Asp465Ala
NM_001127898.4:c.1382A>C MANE Select	NP_001121370.1:p.Asp461Ala
NM_000084.5:c.1172A>C	NP_000075.1:p.Asp391Ala
NM_001127899.4:c.1382A>C	NP_001121371.1:p.Asp461Ala
NM_001282163.2:c.1232A>C	NP_001269092.1:p.Asp411Ala