Canonical Allele Identifier: CA516099164

Gene: CASK

Linked Data

• ClinVar Variation Id: 2826589
• ClinVar RCV Id: RCV003625441
• gnomAD v4: X-41531085-C-A
• MyVariant Identifiers: chrX:g.41390338C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531085C>A , CM000685.2:g.41531085C>A	GRCh38
NC_000023.10:g.41390338C>A , CM000685.1:g.41390338C>A	GRCh37
NC_000023.9:g.41275282C>A	NCBI36
NG_016754.1:g.396950G>T
NG_016754.2:g.396950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2391G>T	ENSP00000367396.2:p.Ala797=
ENST00000378158.6:c.2388G>T	ENSP00000367400.2:p.Ala796=
ENST00000378163.7:c.2442G>T MANE Select	ENSP00000367405.1:p.Ala814=
ENST00000378166.9:c.2340G>T	ENSP00000367408.5:p.Ala780=
ENST00000378168.8:c.2445G>T	ENSP00000367410.4:p.Ala815=
ENST00000378179.9:c.1062G>T	ENSP00000367421.4:p.Ala354=
ENST00000421587.8:c.2373G>T	ENSP00000400526.4:p.Ala791=
ENST00000442742.7:c.2304G>T	ENSP00000398007.3:p.Ala768=
ENST00000642499.1:n.1221G>T
ENST00000643733.1:c.214G>T
ENST00000644219.1:c.2424G>T	ENSP00000495357.1:p.Ala808=
ENST00000644347.1:c.2355G>T	ENSP00000494183.1:p.Ala785=
ENST00000645566.1:c.2427G>T	ENSP00000494788.1:p.Ala809=
ENST00000645937.2:n.2673G>T
ENST00000645986.2:c.2409G>T	ENSP00000494409.2:p.Ala803=
ENST00000646087.2:c.1764G>T	ENSP00000495510.2:p.Ala588=
ENST00000646120.2:c.2358G>T	ENSP00000495291.2:p.Ala786=
ENST00000675354.1:c.2376G>T	ENSP00000502315.1:p.Ala792=
ENST00000378158.5:c.2391G>T	ENSP00000367400.1:p.Ala797=
ENST00000378163.5:c.2442G>T	ENSP00000367405.1:p.Ala814=
ENST00000378166.8:c.2427G>T	ENSP00000367408.4:p.Ala809=
ENST00000378168.6:c.807G>T	ENSP00000367410.2:p.Ala269=
ENST00000378179.7:c.1218G>T	ENSP00000367421.3:p.Ala406=
ENST00000421587.6:c.2355G>T	ENSP00000400526.2:p.Ala785=
ENST00000442742.6:c.2358G>T	ENSP00000398007.2:p.Ala786=
NM_001126054.2:c.2358G>T	NP_001119526.1:p.Ala786=
NM_001126055.2:c.2355G>T	NP_001119527.1:p.Ala785=
NM_003688.3:c.2427G>T	NP_003679.2:p.Ala809=
XM_005272686.3:c.2424G>T	XP_005272743.1:p.Ala808=
XM_006724566.2:c.2319G>T	XP_006724629.1:p.Ala773=
XM_011543993.1:c.2442G>T	XP_011542295.1:p.Ala814=
XM_011543994.1:c.2406G>T	XP_011542296.1:p.Ala802=
XM_011543995.1:c.2373G>T	XP_011542297.1:p.Ala791=
XM_011543996.1:c.2337G>T	XP_011542298.1:p.Ala779=
XM_011543997.1:c.1869G>T	XP_011542299.1:p.Ala623=
XM_005272686.4:c.2424G>T	XP_005272743.1:p.Ala808=
XM_006724566.3:c.2319G>T	XP_006724629.1:p.Ala773=
XM_011543993.2:c.2442G>T	XP_011542295.1:p.Ala814=
XM_011543994.2:c.2406G>T	XP_011542296.1:p.Ala802=
XM_011543995.2:c.2373G>T	XP_011542297.1:p.Ala791=
XM_011543996.2:c.2337G>T	XP_011542298.1:p.Ala779=
XM_011543997.3:c.1869G>T	XP_011542299.1:p.Ala623=
XM_024452473.1:c.1764G>T	XP_024308241.1:p.Ala588=
NM_001367721.1:c.2442G>T MANE Select	NP_001354650.1:p.Ala814=