Canonical Allele Identifier: CA413185367

Gene: CLCN5

Linked Data

• dbSNP Id: rs1933891683
• MyVariant Identifiers: chrX:g.49851150C>G (hg19) ; chrX:g.50086493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086493C>G , CM000685.2:g.50086493C>G	GRCh38
NC_000023.10:g.49851150C>G , CM000685.1:g.49851150C>G	GRCh37
NC_000023.9:g.49737890C>G	NCBI36
NG_007159.3:g.168878C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1180C>G MANE Select	ENSP00000365259.3:p.Leu394Val
ENST00000642383.1:c.430C>G	ENSP00000496353.1:p.Leu144Val
ENST00000642885.1:c.970C>G	ENSP00000496632.1:p.Leu324Val
ENST00000643129.1:c.1467C>G
ENST00000646398.1:c.*355C>G	ENSP00000495122.1:n.*355C>G
ENST00000307367.2:c.970C>G	ENSP00000304257.2:p.Leu324Val
ENST00000376088.7:c.1180C>G	ENSP00000365256.3:p.Leu394Val
ENST00000376091.7:c.1180C>G	ENSP00000365259.3:p.Leu394Val
ENST00000376108.7:c.970C>G	ENSP00000365276.3:p.Leu324Val
NM_000084.4:c.970C>G	NP_000075.1:p.Leu324Val
NM_001127898.3:c.1180C>G	NP_001121370.1:p.Leu394Val
NM_001127899.3:c.1180C>G	NP_001121371.1:p.Leu394Val
NM_001282163.1:c.1030C>G	NP_001269092.1:p.Leu344Val
XM_011543888.1:c.1180C>G	XP_011542190.1:p.Leu394Val
XM_011543889.1:c.970C>G	XP_011542191.1:p.Leu324Val
XM_017029257.1:c.1192C>G	XP_016884746.1:p.Leu398Val
XM_017029258.1:c.1192C>G	XP_016884747.1:p.Leu398Val
NM_001127898.4:c.1180C>G MANE Select	NP_001121370.1:p.Leu394Val
NM_000084.5:c.970C>G	NP_000075.1:p.Leu324Val
NM_001127899.4:c.1180C>G	NP_001121371.1:p.Leu394Val
NM_001282163.2:c.1030C>G	NP_001269092.1:p.Leu344Val