Canonical Allele Identifier: CA347316

Gene: CLCN5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086562C>T , CM000685.2:g.50086562C>T	GRCh38
NC_000023.10:g.49851219C>T , CM000685.1:g.49851219C>T	GRCh37
NC_000023.9:g.49737959C>T	NCBI36
NG_007159.3:g.168947C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127898.4:c.1249C>T MANE Select	NP_001121370.1:p.Arg417Ter
ENST00000376091.8:c.1249C>T MANE Select	ENSP00000365259.3:p.Arg417Ter
NM_000084.4:c.1039C>T	NP_000075.1:p.Arg347Ter
NM_000084.5:c.1039C>T	NP_000075.1:p.Arg347Ter
NM_001127898.3:c.1249C>T	NP_001121370.1:p.Arg417Ter
NM_001127899.3:c.1249C>T	NP_001121371.1:p.Arg417Ter
NM_001127899.4:c.1249C>T	NP_001121371.1:p.Arg417Ter
NM_001282163.1:c.1099C>T	NP_001269092.1:p.Arg367Ter
NM_001282163.2:c.1099C>T	NP_001269092.1:p.Arg367Ter
ENST00000307367.2:c.1039C>T	ENSP00000304257.2:p.Arg347Ter
ENST00000376088.7:c.1249C>T	ENSP00000365256.3:p.Arg417Ter
ENST00000376091.7:c.1249C>T	ENSP00000365259.3:p.Arg417Ter
ENST00000376108.7:c.1039C>T	ENSP00000365276.3:p.Arg347Ter
ENST00000642383.1:c.499C>T	ENSP00000496353.1:p.Arg167Ter
ENST00000642885.1:c.1039C>T	ENSP00000496632.1:p.Arg347Ter
ENST00000643129.1:c.1536C>T
ENST00000646398.1:c.*424C>T	ENSP00000495122.1:n.*424C>T
XM_011543888.1:c.1249C>T	XP_011542190.1:p.Arg417Ter
XM_011543889.1:c.1039C>T	XP_011542191.1:p.Arg347Ter
XM_017029257.1:c.1261C>T	XP_016884746.1:p.Arg421Ter
XM_017029258.1:c.1261C>T	XP_016884747.1:p.Arg421Ter