Canonical Allele Identifier: CA641789216

Gene: CLCN5

Linked Data

• dbSNP Id: rs1557191612
• gnomAD v2: X-49837115-T-C
• gnomAD v3: X-50072460-T-C
• gnomAD v4: X-50072460-T-C
• MyVariant Identifiers: chrX:g.49837115T>C (hg19) ; chrX:g.50072460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50072460T>C , CM000685.2:g.50072460T>C	GRCh38
NC_000023.10:g.49837115T>C , CM000685.1:g.49837115T>C	GRCh37
NC_000023.9:g.49723855T>C	NCBI36
NG_007159.3:g.154845T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376091.8:c.316-29T>C MANE Select	ENSP00000365259.3:n.316-29T>C
ENST00000642885.1:c.106-29T>C	ENSP00000496632.1:n.106-29T>C
ENST00000643129.1:c.603-29T>C
ENST00000646398.1:c.106-29T>C	ENSP00000495122.1:n.106-29T>C
ENST00000307367.2:c.106-29T>C	ENSP00000304257.2:n.106-29T>C
ENST00000376088.7:c.316-29T>C	ENSP00000365256.3:n.316-29T>C
ENST00000376091.7:c.316-29T>C	ENSP00000365259.3:n.316-29T>C
ENST00000376108.7:c.106-29T>C	ENSP00000365276.3:n.106-29T>C
NM_000084.4:c.106-29T>C	NP_000075.1:n.106-29T>C
NM_001127898.3:c.316-29T>C	NP_001121370.1:n.316-29T>C
NM_001127899.3:c.316-29T>C	NP_001121371.1:n.316-29T>C
NM_001282163.1:c.166-29T>C	NP_001269092.1:n.166-29T>C
XM_011543888.1:c.316-29T>C	XP_011542190.1:n.316-29T>C
XM_011543889.1:c.106-29T>C	XP_011542191.1:n.106-29T>C
XM_017029257.1:c.328-29T>C	XP_016884746.1:n.328-29T>C
XM_017029258.1:c.328-29T>C	XP_016884747.1:n.328-29T>C
NM_001127898.4:c.316-29T>C MANE Select	NP_001121370.1:n.316-29T>C
NM_000084.5:c.106-29T>C	NP_000075.1:n.106-29T>C
NM_001127899.4:c.316-29T>C	NP_001121371.1:n.316-29T>C
NM_001282163.2:c.166-29T>C	NP_001269092.1:n.166-29T>C