Canonical Allele Identifier: CA413184968

Gene: CLCN5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086050G>T , CM000685.2:g.50086050G>T	GRCh38
NC_000023.10:g.49850707G>T , CM000685.1:g.49850707G>T	GRCh37
NC_000023.9:g.49737447G>T	NCBI36
NG_007159.3:g.168435G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001127898.4:c.1004G>T MANE Select	NP_001121370.1:p.Ser335Ile
ENST00000376091.8:c.1004G>T MANE Select	ENSP00000365259.3:p.Ser335Ile
NM_000084.4:c.794G>T	NP_000075.1:p.Ser265Ile
NM_000084.5:c.794G>T	NP_000075.1:p.Ser265Ile
NM_001127898.3:c.1004G>T	NP_001121370.1:p.Ser335Ile
NM_001127899.3:c.1004G>T	NP_001121371.1:p.Ser335Ile
NM_001127899.4:c.1004G>T	NP_001121371.1:p.Ser335Ile
NM_001282163.1:c.854G>T	NP_001269092.1:p.Ser285Ile
NM_001282163.2:c.854G>T	NP_001269092.1:p.Ser285Ile
ENST00000307367.2:c.794G>T	ENSP00000304257.2:p.Ser265Ile
ENST00000376088.7:c.1004G>T	ENSP00000365256.3:p.Ser335Ile
ENST00000376091.7:c.1004G>T	ENSP00000365259.3:p.Ser335Ile
ENST00000376108.7:c.794G>T	ENSP00000365276.3:p.Ser265Ile
ENST00000642383.1:c.254G>T	ENSP00000496353.1:p.Ser85Ile
ENST00000642885.1:c.794G>T	ENSP00000496632.1:p.Ser265Ile
ENST00000643129.1:c.1291G>T
ENST00000646398.1:c.*179G>T	ENSP00000495122.1:n.*179G>T
XM_011543888.1:c.1004G>T	XP_011542190.1:p.Ser335Ile
XM_011543889.1:c.794G>T	XP_011542191.1:p.Ser265Ile
XM_017029257.1:c.1016G>T	XP_016884746.1:p.Ser339Ile
XM_017029258.1:c.1016G>T	XP_016884747.1:p.Ser339Ile