Canonical Allele Identifier: CA413185041

Gene: CLCN5

Linked Data

• dbSNP Id: rs1933885883
• gnomAD v3: X-50086343-C-A
• gnomAD v4: X-50086343-C-A
• MyVariant Identifiers: chrX:g.49851000C>A (hg19) ; chrX:g.50086343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086343C>A , CM000685.2:g.50086343C>A	GRCh38
NC_000023.10:g.49851000C>A , CM000685.1:g.49851000C>A	GRCh37
NC_000023.9:g.49737740C>A	NCBI36
NG_007159.3:g.168728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1030C>A MANE Select	ENSP00000365259.3:p.Pro344Thr
ENST00000642383.1:c.280C>A	ENSP00000496353.1:p.Pro94Thr
ENST00000642885.1:c.820C>A	ENSP00000496632.1:p.Pro274Thr
ENST00000643129.1:c.1317C>A
ENST00000646398.1:c.*205C>A	ENSP00000495122.1:n.*205C>A
ENST00000307367.2:c.820C>A	ENSP00000304257.2:p.Pro274Thr
ENST00000376088.7:c.1030C>A	ENSP00000365256.3:p.Pro344Thr
ENST00000376091.7:c.1030C>A	ENSP00000365259.3:p.Pro344Thr
ENST00000376108.7:c.820C>A	ENSP00000365276.3:p.Pro274Thr
NM_000084.4:c.820C>A	NP_000075.1:p.Pro274Thr
NM_001127898.3:c.1030C>A	NP_001121370.1:p.Pro344Thr
NM_001127899.3:c.1030C>A	NP_001121371.1:p.Pro344Thr
NM_001282163.1:c.880C>A	NP_001269092.1:p.Pro294Thr
XM_011543888.1:c.1030C>A	XP_011542190.1:p.Pro344Thr
XM_011543889.1:c.820C>A	XP_011542191.1:p.Pro274Thr
XM_017029257.1:c.1042C>A	XP_016884746.1:p.Pro348Thr
XM_017029258.1:c.1042C>A	XP_016884747.1:p.Pro348Thr
NM_001127898.4:c.1030C>A MANE Select	NP_001121370.1:p.Pro344Thr
NM_000084.5:c.820C>A	NP_000075.1:p.Pro274Thr
NM_001127899.4:c.1030C>A	NP_001121371.1:p.Pro344Thr
NM_001282163.2:c.880C>A	NP_001269092.1:p.Pro294Thr