Canonical Allele Identifier: CA641789217

Gene: CLCN5

Linked Data

• dbSNP Id: rs1557191614
• gnomAD v2: X-49837120-C-T
• gnomAD v4: X-50072465-C-T
• MyVariant Identifiers: chrX:g.49837120C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50072465C>T , CM000685.2:g.50072465C>T	GRCh38
NC_000023.10:g.49837120C>T , CM000685.1:g.49837120C>T	GRCh37
NC_000023.9:g.49723860C>T	NCBI36
NG_007159.3:g.154850C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376091.8:c.316-24C>T MANE Select	ENSP00000365259.3:n.316-24C>T
ENST00000642885.1:c.106-24C>T	ENSP00000496632.1:n.106-24C>T
ENST00000643129.1:c.603-24C>T
ENST00000646398.1:c.106-24C>T	ENSP00000495122.1:n.106-24C>T
ENST00000307367.2:c.106-24C>T	ENSP00000304257.2:n.106-24C>T
ENST00000376088.7:c.316-24C>T	ENSP00000365256.3:n.316-24C>T
ENST00000376091.7:c.316-24C>T	ENSP00000365259.3:n.316-24C>T
ENST00000376108.7:c.106-24C>T	ENSP00000365276.3:n.106-24C>T
NM_000084.4:c.106-24C>T	NP_000075.1:n.106-24C>T
NM_001127898.3:c.316-24C>T	NP_001121370.1:n.316-24C>T
NM_001127899.3:c.316-24C>T	NP_001121371.1:n.316-24C>T
NM_001282163.1:c.166-24C>T	NP_001269092.1:n.166-24C>T
XM_011543888.1:c.316-24C>T	XP_011542190.1:n.316-24C>T
XM_011543889.1:c.106-24C>T	XP_011542191.1:n.106-24C>T
XM_017029257.1:c.328-24C>T	XP_016884746.1:n.328-24C>T
XM_017029258.1:c.328-24C>T	XP_016884747.1:n.328-24C>T
NM_001127898.4:c.316-24C>T MANE Select	NP_001121370.1:n.316-24C>T
NM_000084.5:c.106-24C>T	NP_000075.1:n.106-24C>T
NM_001127899.4:c.316-24C>T	NP_001121371.1:n.316-24C>T
NM_001282163.2:c.166-24C>T	NP_001269092.1:n.166-24C>T