Canonical Allele Identifier: CA10413871

Gene: CLCN5

Linked Data

• dbSNP Id: rs781865423
• ExAC: X:49851367 A / C
• gnomAD v2: X-49851367-A-C
• gnomAD v3: X-50086710-A-C
• gnomAD v4: X-50086710-A-C
• MyVariant Identifiers: chrX:g.49851367A>C (hg19) ; chrX:g.50086710A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086710A>C , CM000685.2:g.50086710A>C	GRCh38
NC_000023.10:g.49851367A>C , CM000685.1:g.49851367A>C	GRCh37
NC_000023.9:g.49738107A>C	NCBI36
NG_007159.3:g.169095A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1397A>C MANE Select	ENSP00000365259.3:p.Asp466Ala
ENST00000642383.1:c.647A>C	ENSP00000496353.1:p.Asp216Ala
ENST00000642885.1:c.1187A>C	ENSP00000496632.1:p.Asp396Ala
ENST00000643129.1:c.1684A>C
ENST00000646398.1:c.*572A>C	ENSP00000495122.1:n.*572A>C
ENST00000307367.2:c.1187A>C	ENSP00000304257.2:p.Asp396Ala
ENST00000376088.7:c.1397A>C	ENSP00000365256.3:p.Asp466Ala
ENST00000376091.7:c.1397A>C	ENSP00000365259.3:p.Asp466Ala
ENST00000376108.7:c.1187A>C	ENSP00000365276.3:p.Asp396Ala
NM_000084.4:c.1187A>C	NP_000075.1:p.Asp396Ala
NM_001127898.3:c.1397A>C	NP_001121370.1:p.Asp466Ala
NM_001127899.3:c.1397A>C	NP_001121371.1:p.Asp466Ala
NM_001282163.1:c.1247A>C	NP_001269092.1:p.Asp416Ala
XM_011543888.1:c.1397A>C	XP_011542190.1:p.Asp466Ala
XM_011543889.1:c.1187A>C	XP_011542191.1:p.Asp396Ala
XM_017029257.1:c.1409A>C	XP_016884746.1:p.Asp470Ala
XM_017029258.1:c.1409A>C	XP_016884747.1:p.Asp470Ala
NM_001127898.4:c.1397A>C MANE Select	NP_001121370.1:p.Asp466Ala
NM_000084.5:c.1187A>C	NP_000075.1:p.Asp396Ala
NM_001127899.4:c.1397A>C	NP_001121371.1:p.Asp466Ala
NM_001282163.2:c.1247A>C	NP_001269092.1:p.Asp416Ala