Canonical Allele Identifier: CA10413850

Gene: CLCN5

Linked Data

• dbSNP Id: rs782531337
• ExAC: X:49851206 C / T
• gnomAD v2: X-49851206-C-T
• gnomAD v4: X-50086549-C-T
• MyVariant Identifiers: chrX:g.49851206C>T (hg19) ; chrX:g.50086549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086549C>T , CM000685.2:g.50086549C>T	GRCh38
NC_000023.10:g.49851206C>T , CM000685.1:g.49851206C>T	GRCh37
NC_000023.9:g.49737946C>T	NCBI36
NG_007159.3:g.168934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1236C>T MANE Select	ENSP00000365259.3:p.Ala412=
ENST00000642383.1:c.486C>T	ENSP00000496353.1:p.Ala162=
ENST00000642885.1:c.1026C>T	ENSP00000496632.1:p.Ala342=
ENST00000643129.1:c.1523C>T
ENST00000646398.1:c.*411C>T	ENSP00000495122.1:n.*411C>T
ENST00000307367.2:c.1026C>T	ENSP00000304257.2:p.Ala342=
ENST00000376088.7:c.1236C>T	ENSP00000365256.3:p.Ala412=
ENST00000376091.7:c.1236C>T	ENSP00000365259.3:p.Ala412=
ENST00000376108.7:c.1026C>T	ENSP00000365276.3:p.Ala342=
NM_000084.4:c.1026C>T	NP_000075.1:p.Ala342=
NM_001127898.3:c.1236C>T	NP_001121370.1:p.Ala412=
NM_001127899.3:c.1236C>T	NP_001121371.1:p.Ala412=
NM_001282163.1:c.1086C>T	NP_001269092.1:p.Ala362=
XM_011543888.1:c.1236C>T	XP_011542190.1:p.Ala412=
XM_011543889.1:c.1026C>T	XP_011542191.1:p.Ala342=
XM_017029257.1:c.1248C>T	XP_016884746.1:p.Ala416=
XM_017029258.1:c.1248C>T	XP_016884747.1:p.Ala416=
NM_001127898.4:c.1236C>T MANE Select	NP_001121370.1:p.Ala412=
NM_000084.5:c.1026C>T	NP_000075.1:p.Ala342=
NM_001127899.4:c.1236C>T	NP_001121371.1:p.Ala412=
NM_001282163.2:c.1086C>T	NP_001269092.1:p.Ala362=