Canonical Allele Identifier: CA121669
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 11796
ClinVar RCV Id: RCV000012563 RCV000012564
dbSNP Id: rs151340620
MyVariant Identifiers: chrX:g.49851017G>A (hg19) chrX:g.50086360G>A (hg38)
PubMed: PMID:8559248 PMID:9062355
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50086360G>A , CM000685.2:g.50086360G>A GRCh38
NC_000023.10:g.49851017G>A , CM000685.1:g.49851017G>A GRCh37
NC_000023.9:g.49737757G>A NCBI36
NG_007159.3:g.168745G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376091.8:c.1047G>A MANE Select ENSP00000365259.3:p.Trp349Ter
ENST00000642383.1:c.297G>A ENSP00000496353.1:p.Trp99Ter
ENST00000642885.1:c.837G>A ENSP00000496632.1:p.Trp279Ter
ENST00000643129.1:c.1334G>A
ENST00000646398.1:c.*222G>A ENSP00000495122.1:n.*222G>A
ENST00000307367.2:c.837G>A ENSP00000304257.2:p.Trp279Ter
ENST00000376088.7:c.1047G>A ENSP00000365256.3:p.Trp349Ter
ENST00000376091.7:c.1047G>A ENSP00000365259.3:p.Trp349Ter
ENST00000376108.7:c.837G>A ENSP00000365276.3:p.Trp279Ter
NM_000084.4:c.837G>A NP_000075.1:p.Trp279Ter
NM_001127898.3:c.1047G>A NP_001121370.1:p.Trp349Ter
NM_001127899.3:c.1047G>A NP_001121371.1:p.Trp349Ter
NM_001282163.1:c.897G>A NP_001269092.1:p.Trp299Ter
XM_011543888.1:c.1047G>A XP_011542190.1:p.Trp349Ter
XM_011543889.1:c.837G>A XP_011542191.1:p.Trp279Ter
XM_017029257.1:c.1059G>A XP_016884746.1:p.Trp353Ter
XM_017029258.1:c.1059G>A XP_016884747.1:p.Trp353Ter
NM_001127898.4:c.1047G>A MANE Select NP_001121370.1:p.Trp349Ter
NM_000084.5:c.837G>A NP_000075.1:p.Trp279Ter
NM_001127899.4:c.1047G>A NP_001121371.1:p.Trp349Ter
NM_001282163.2:c.897G>A NP_001269092.1:p.Trp299Ter
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