Canonical Allele Identifier: CA2428768917

Gene: CLCN5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086604C= , CM000685.2:g.50086604C=	GRCh38
NC_000023.10:g.49851261C= , CM000685.1:g.49851261C=	GRCh37
NC_000023.9:g.49738001C=	NCBI36
NG_007159.3:g.168989C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1291C= MANE Select	ENSP00000365259.3:p.Leu431=
ENST00000642383.1:c.541C=	ENSP00000496353.1:p.Leu181=
ENST00000642885.1:c.1081C=	ENSP00000496632.1:p.Leu361=
ENST00000643129.1:c.1578C=
ENST00000646398.1:c.*466C=	ENSP00000495122.1:n.*466C=
ENST00000307367.2:c.1081C=	ENSP00000304257.2:p.Leu361=
ENST00000376088.7:c.1291C=	ENSP00000365256.3:p.Leu431=
ENST00000376091.7:c.1291C=	ENSP00000365259.3:p.Leu431=
ENST00000376108.7:c.1081C=	ENSP00000365276.3:p.Leu361=
NM_000084.4:c.1081C=	NP_000075.1:p.Leu361=
NM_001127898.3:c.1291C=	NP_001121370.1:p.Leu431=
NM_001127899.3:c.1291C=	NP_001121371.1:p.Leu431=
NM_001282163.1:c.1141C=	NP_001269092.1:p.Leu381=
XM_011543888.1:c.1291C=	XP_011542190.1:p.Leu431=
XM_011543889.1:c.1081C=	XP_011542191.1:p.Leu361=
XM_017029257.1:c.1303C=	XP_016884746.1:p.Leu435=
XM_017029258.1:c.1303C=	XP_016884747.1:p.Leu435=
NM_001127898.4:c.1291C= MANE Select	NP_001121370.1:p.Leu431=
NM_000084.5:c.1081C=	NP_000075.1:p.Leu361=
NM_001127899.4:c.1291C=	NP_001121371.1:p.Leu431=
NM_001282163.2:c.1141C=	NP_001269092.1:p.Leu381=