Canonical Allele Identifier: CA329782438

Gene: CLCN5

Linked Data

• dbSNP Id: rs1024595569
• gnomAD v2: X-49850890-T-C
• gnomAD v3: X-50086233-T-C
• gnomAD v4: X-50086233-T-C
• MyVariant Identifiers: chrX:g.49850890T>C (hg19) ; chrX:g.50086233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086233T>C , CM000685.2:g.50086233T>C	GRCh38
NC_000023.10:g.49850890T>C , CM000685.1:g.49850890T>C	GRCh37
NC_000023.9:g.49737630T>C	NCBI36
NG_007159.3:g.168618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1015-95T>C MANE Select	ENSP00000365259.3:n.1015-95T>C
ENST00000642383.1:c.265-95T>C	ENSP00000496353.1:n.265-95T>C
ENST00000642885.1:c.805-95T>C	ENSP00000496632.1:n.805-95T>C
ENST00000643129.1:c.1302-95T>C
ENST00000646398.1:c.*190-95T>C	ENSP00000495122.1:n.*190-95T>C
ENST00000307367.2:c.805-95T>C	ENSP00000304257.2:n.805-95T>C
ENST00000376088.7:c.1015-95T>C	ENSP00000365256.3:n.1015-95T>C
ENST00000376091.7:c.1015-95T>C	ENSP00000365259.3:n.1015-95T>C
ENST00000376108.7:c.805-95T>C	ENSP00000365276.3:n.805-95T>C
NM_000084.4:c.805-95T>C	NP_000075.1:n.805-95T>C
NM_001127898.3:c.1015-95T>C	NP_001121370.1:n.1015-95T>C
NM_001127899.3:c.1015-95T>C	NP_001121371.1:n.1015-95T>C
NM_001282163.1:c.865-95T>C	NP_001269092.1:n.865-95T>C
XM_011543888.1:c.1015-95T>C	XP_011542190.1:n.1015-95T>C
XM_011543889.1:c.805-95T>C	XP_011542191.1:n.805-95T>C
XM_017029257.1:c.1027-95T>C	XP_016884746.1:n.1027-95T>C
XM_017029258.1:c.1027-95T>C	XP_016884747.1:n.1027-95T>C
NM_001127898.4:c.1015-95T>C MANE Select	NP_001121370.1:n.1015-95T>C
NM_000084.5:c.805-95T>C	NP_000075.1:n.805-95T>C
NM_001127899.4:c.1015-95T>C	NP_001121371.1:n.1015-95T>C
NM_001282163.2:c.865-95T>C	NP_001269092.1:n.865-95T>C