Canonical Allele Identifier: CA413185340

Gene: CLCN5

Linked Data

• MyVariant Identifiers: chrX:g.49851138G>C (hg19) ; chrX:g.50086481G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086481G>C , CM000685.2:g.50086481G>C	GRCh38
NC_000023.10:g.49851138G>C , CM000685.1:g.49851138G>C	GRCh37
NC_000023.9:g.49737878G>C	NCBI36
NG_007159.3:g.168866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1168G>C MANE Select	ENSP00000365259.3:p.Val390Leu
ENST00000642383.1:c.418G>C	ENSP00000496353.1:p.Val140Leu
ENST00000642885.1:c.958G>C	ENSP00000496632.1:p.Val320Leu
ENST00000643129.1:c.1455G>C
ENST00000646398.1:c.*343G>C	ENSP00000495122.1:n.*343G>C
ENST00000307367.2:c.958G>C	ENSP00000304257.2:p.Val320Leu
ENST00000376088.7:c.1168G>C	ENSP00000365256.3:p.Val390Leu
ENST00000376091.7:c.1168G>C	ENSP00000365259.3:p.Val390Leu
ENST00000376108.7:c.958G>C	ENSP00000365276.3:p.Val320Leu
NM_000084.4:c.958G>C	NP_000075.1:p.Val320Leu
NM_001127898.3:c.1168G>C	NP_001121370.1:p.Val390Leu
NM_001127899.3:c.1168G>C	NP_001121371.1:p.Val390Leu
NM_001282163.1:c.1018G>C	NP_001269092.1:p.Val340Leu
XM_011543888.1:c.1168G>C	XP_011542190.1:p.Val390Leu
XM_011543889.1:c.958G>C	XP_011542191.1:p.Val320Leu
XM_017029257.1:c.1180G>C	XP_016884746.1:p.Val394Leu
XM_017029258.1:c.1180G>C	XP_016884747.1:p.Val394Leu
NM_001127898.4:c.1168G>C MANE Select	NP_001121370.1:p.Val390Leu
NM_000084.5:c.958G>C	NP_000075.1:p.Val320Leu
NM_001127899.4:c.1168G>C	NP_001121371.1:p.Val390Leu
NM_001282163.2:c.1018G>C	NP_001269092.1:p.Val340Leu