Canonical Allele Identifier: CA10413976

Gene: CLCN5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50090727A>C , CM000685.2:g.50090727A>C	GRCh38
NC_000023.10:g.49855384A>C , CM000685.1:g.49855384A>C	GRCh37
NC_000023.9:g.49742124A>C	NCBI36
NG_007159.3:g.173112A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127898.4:c.2201A>C MANE Select	NP_001121370.1:p.Glu734Ala
ENST00000376091.8:c.2201A>C MANE Select	ENSP00000365259.3:p.Glu734Ala
NM_000084.4:c.1991A>C	NP_000075.1:p.Glu664Ala
NM_000084.5:c.1991A>C	NP_000075.1:p.Glu664Ala
NM_001127898.3:c.2201A>C	NP_001121370.1:p.Glu734Ala
NM_001127899.3:c.2201A>C	NP_001121371.1:p.Glu734Ala
NM_001127899.4:c.2201A>C	NP_001121371.1:p.Glu734Ala
NM_001282163.1:c.2051A>C	NP_001269092.1:p.Glu684Ala
NM_001282163.2:c.2051A>C	NP_001269092.1:p.Glu684Ala
ENST00000307367.2:c.1991A>C	ENSP00000304257.2:p.Glu664Ala
ENST00000376088.7:c.2201A>C	ENSP00000365256.3:p.Glu734Ala
ENST00000376091.7:c.2201A>C	ENSP00000365259.3:p.Glu734Ala
ENST00000376108.7:c.1991A>C	ENSP00000365276.3:p.Glu664Ala
ENST00000642383.1:c.1523A>C	ENSP00000496353.1:p.Glu508Ala
ENST00000642885.1:c.1991A>C	ENSP00000496632.1:p.Glu664Ala
ENST00000643129.1:c.2488A>C
ENST00000646398.1:c.*1376A>C	ENSP00000495122.1:n.*1376A>C
XM_011543888.1:c.2273A>C	XP_011542190.1:p.Glu758Ala
XM_011543889.1:c.2063A>C	XP_011542191.1:p.Glu688Ala
XM_017029257.1:c.2213A>C	XP_016884746.1:p.Glu738Ala
XM_017029258.1:c.2213A>C	XP_016884747.1:p.Glu738Ala