Canonical Allele Identifier: CA412990233

Gene: CASK

Linked Data

• COSMIC: COSM5898645 ; COSM5898646
• MyVariant Identifiers: chrX:g.41390349G>A (hg19) ; chrX:g.41531096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531096G>A , CM000685.2:g.41531096G>A	GRCh38
NC_000023.10:g.41390349G>A , CM000685.1:g.41390349G>A	GRCh37
NC_000023.9:g.41275293G>A	NCBI36
NG_016754.1:g.396939C>T
NG_016754.2:g.396939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2380C>T	ENSP00000367396.2:p.His794Tyr
ENST00000378158.6:c.2377C>T	ENSP00000367400.2:p.His793Tyr
ENST00000378163.7:c.2431C>T MANE Select	ENSP00000367405.1:p.His811Tyr
ENST00000378166.9:c.2329C>T	ENSP00000367408.5:p.His777Tyr
ENST00000378168.8:c.2434C>T	ENSP00000367410.4:p.His812Tyr
ENST00000378179.9:c.1051C>T	ENSP00000367421.4:p.His351Tyr
ENST00000421587.8:c.2362C>T	ENSP00000400526.4:p.His788Tyr
ENST00000442742.7:c.2293C>T	ENSP00000398007.3:p.His765Tyr
ENST00000642499.1:n.1210C>T
ENST00000643733.1:c.203C>T
ENST00000644219.1:c.2413C>T	ENSP00000495357.1:p.His805Tyr
ENST00000644347.1:c.2344C>T	ENSP00000494183.1:p.His782Tyr
ENST00000645566.1:c.2416C>T	ENSP00000494788.1:p.His806Tyr
ENST00000645937.2:n.2662C>T
ENST00000645986.2:c.2398C>T	ENSP00000494409.2:p.His800Tyr
ENST00000646087.2:c.1753C>T	ENSP00000495510.2:p.His585Tyr
ENST00000646120.2:c.2347C>T	ENSP00000495291.2:p.His783Tyr
ENST00000675354.1:c.2365C>T	ENSP00000502315.1:p.His789Tyr
ENST00000378158.5:c.2380C>T	ENSP00000367400.1:p.His794Tyr
ENST00000378163.5:c.2431C>T	ENSP00000367405.1:p.His811Tyr
ENST00000378166.8:c.2416C>T	ENSP00000367408.4:p.His806Tyr
ENST00000378168.6:c.796C>T	ENSP00000367410.2:p.His266Tyr
ENST00000378179.7:c.1207C>T	ENSP00000367421.3:p.His403Tyr
ENST00000421587.6:c.2344C>T	ENSP00000400526.2:p.His782Tyr
ENST00000442742.6:c.2347C>T	ENSP00000398007.2:p.His783Tyr
NM_001126054.2:c.2347C>T	NP_001119526.1:p.His783Tyr
NM_001126055.2:c.2344C>T	NP_001119527.1:p.His782Tyr
NM_003688.3:c.2416C>T	NP_003679.2:p.His806Tyr
XM_005272686.3:c.2413C>T	XP_005272743.1:p.His805Tyr
XM_006724566.2:c.2308C>T	XP_006724629.1:p.His770Tyr
XM_011543993.1:c.2431C>T	XP_011542295.1:p.His811Tyr
XM_011543994.1:c.2395C>T	XP_011542296.1:p.His799Tyr
XM_011543995.1:c.2362C>T	XP_011542297.1:p.His788Tyr
XM_011543996.1:c.2326C>T	XP_011542298.1:p.His776Tyr
XM_011543997.1:c.1858C>T	XP_011542299.1:p.His620Tyr
XM_005272686.4:c.2413C>T	XP_005272743.1:p.His805Tyr
XM_006724566.3:c.2308C>T	XP_006724629.1:p.His770Tyr
XM_011543993.2:c.2431C>T	XP_011542295.1:p.His811Tyr
XM_011543994.2:c.2395C>T	XP_011542296.1:p.His799Tyr
XM_011543995.2:c.2362C>T	XP_011542297.1:p.His788Tyr
XM_011543996.2:c.2326C>T	XP_011542298.1:p.His776Tyr
XM_011543997.3:c.1858C>T	XP_011542299.1:p.His620Tyr
XM_024452473.1:c.1753C>T	XP_024308241.1:p.His585Tyr
NM_001367721.1:c.2431C>T MANE Select	NP_001354650.1:p.His811Tyr