Canonical Allele Identifier: CA413185290

Gene: CLCN5

Linked Data

• MyVariant Identifiers: chrX:g.49851117C>A (hg19) ; chrX:g.50086460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086460C>A , CM000685.2:g.50086460C>A	GRCh38
NC_000023.10:g.49851117C>A , CM000685.1:g.49851117C>A	GRCh37
NC_000023.9:g.49737857C>A	NCBI36
NG_007159.3:g.168845C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376091.8:c.1147C>A MANE Select	ENSP00000365259.3:p.Pro383Thr
ENST00000642383.1:c.397C>A	ENSP00000496353.1:p.Pro133Thr
ENST00000642885.1:c.937C>A	ENSP00000496632.1:p.Pro313Thr
ENST00000643129.1:c.1434C>A
ENST00000646398.1:c.*322C>A	ENSP00000495122.1:n.*322C>A
ENST00000307367.2:c.937C>A	ENSP00000304257.2:p.Pro313Thr
ENST00000376088.7:c.1147C>A	ENSP00000365256.3:p.Pro383Thr
ENST00000376091.7:c.1147C>A	ENSP00000365259.3:p.Pro383Thr
ENST00000376108.7:c.937C>A	ENSP00000365276.3:p.Pro313Thr
NM_000084.4:c.937C>A	NP_000075.1:p.Pro313Thr
NM_001127898.3:c.1147C>A	NP_001121370.1:p.Pro383Thr
NM_001127899.3:c.1147C>A	NP_001121371.1:p.Pro383Thr
NM_001282163.1:c.997C>A	NP_001269092.1:p.Pro333Thr
XM_011543888.1:c.1147C>A	XP_011542190.1:p.Pro383Thr
XM_011543889.1:c.937C>A	XP_011542191.1:p.Pro313Thr
XM_017029257.1:c.1159C>A	XP_016884746.1:p.Pro387Thr
XM_017029258.1:c.1159C>A	XP_016884747.1:p.Pro387Thr
NM_001127898.4:c.1147C>A MANE Select	NP_001121370.1:p.Pro383Thr
NM_000084.5:c.937C>A	NP_000075.1:p.Pro313Thr
NM_001127899.4:c.1147C>A	NP_001121371.1:p.Pro383Thr
NM_001282163.2:c.997C>A	NP_001269092.1:p.Pro333Thr