Canonical Allele Identifier: CA363966627

Gene: CLIC5

Linked Data

• gnomAD v4: 6-45955235-C-G
• MyVariant Identifiers: chr6:g.45922972C>G (hg19) ; chr6:g.45955235C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45955235C>G , CM000668.2:g.45955235C>G	GRCh38
NC_000006.11:g.45922972C>G , CM000668.1:g.45922972C>G	GRCh37
NC_000006.10:g.46030950C>G	NCBI36
NG_031965.1:g.130114G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000185206.12:c.550G>C	ENSP00000185206.6:p.Asp184His
ENST00000339561.12:c.73G>C MANE Select	ENSP00000344165.6:p.Asp25His
ENST00000544153.3:c.73G>C	ENSP00000439195.1:p.Asp25His
ENST00000642250.1:c.73G>C	ENSP00000496359.1:p.Asp25His
ENST00000644324.1:c.73G>C	ENSP00000495186.1:p.Asp25His
ENST00000644878.1:c.73G>C	ENSP00000493894.1:p.Asp25His
ENST00000672327.1:c.73G>C	ENSP00000500472.1:p.Asp25His
ENST00000185206.10:c.550G>C	ENSP00000185206.6:p.Asp184His
ENST00000339561.10:c.73G>C	ENSP00000344165.6:p.Asp25His
ENST00000544153.2:c.73G>C	ENSP00000439195.1:p.Asp25His
NM_001114086.1:c.550G>C	NP_001107558.1:p.Asp184His
NM_001256023.1:c.73G>C	NP_001242952.1:p.Asp25His
NM_016929.4:c.73G>C	NP_058625.2:p.Asp25His
XM_011514692.1:c.550G>C	XP_011512994.1:p.Asp184His
XM_011514693.1:c.550G>C	XP_011512995.1:p.Asp184His
XM_011514694.1:c.550G>C	XP_011512996.1:p.Asp184His
XM_011514695.1:c.-45G>C	XP_011512997.1:n.-45G>C
XR_926257.1:n.595G>C
XR_926258.1:n.595G>C
XR_926259.1:n.595G>C
XM_011514692.3:c.550G>C	XP_011512994.1:p.Asp184His
XM_011514694.3:c.550G>C	XP_011512996.1:p.Asp184His
XM_017010953.1:c.550G>C	XP_016866442.1:p.Asp184His
XR_926258.3:n.663G>C
NM_001114086.2:c.550G>C	NP_001107558.1:p.Asp184His
NM_001370649.1:c.-45G>C	NP_001357578.1:n.-45G>C
NM_001370650.1:c.550G>C	NP_001357579.1:p.Asp184His
NM_016929.5:c.73G>C MANE Select	NP_058625.2:p.Asp25His
NM_001256023.2:c.73G>C	NP_001242952.1:p.Asp25His