Canonical Allele Identifier: CA516099048

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390269C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531016C>A , CM000685.2:g.41531016C>A	GRCh38
NC_000023.10:g.41390269C>A , CM000685.1:g.41390269C>A	GRCh37
NC_000023.9:g.41275213C>A	NCBI36
NG_016754.1:g.397019G>T
NG_016754.2:g.397019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2460G>T	ENSP00000367396.2:p.Val820=
ENST00000378158.6:c.2457G>T	ENSP00000367400.2:p.Val819=
ENST00000378163.7:c.2511G>T MANE Select	ENSP00000367405.1:p.Val837=
ENST00000378166.9:c.2409G>T	ENSP00000367408.5:p.Val803=
ENST00000378168.8:c.2514G>T	ENSP00000367410.4:p.Val838=
ENST00000378179.9:c.1131G>T	ENSP00000367421.4:p.Val377=
ENST00000421587.8:c.2442G>T	ENSP00000400526.4:p.Val814=
ENST00000442742.7:c.2373G>T	ENSP00000398007.3:p.Val791=
ENST00000642499.1:n.1290G>T
ENST00000643733.1:c.283G>T
ENST00000644219.1:c.2493G>T	ENSP00000495357.1:p.Val831=
ENST00000644347.1:c.2424G>T	ENSP00000494183.1:p.Val808=
ENST00000645566.1:c.2496G>T	ENSP00000494788.1:p.Val832=
ENST00000645937.2:n.2742G>T
ENST00000645986.2:c.2478G>T	ENSP00000494409.2:p.Val826=
ENST00000646087.2:c.1833G>T	ENSP00000495510.2:p.Val611=
ENST00000646120.2:c.2427G>T	ENSP00000495291.2:p.Val809=
ENST00000675354.1:c.2445G>T	ENSP00000502315.1:p.Val815=
ENST00000378158.5:c.2460G>T	ENSP00000367400.1:p.Val820=
ENST00000378163.5:c.2511G>T	ENSP00000367405.1:p.Val837=
ENST00000378166.8:c.2496G>T	ENSP00000367408.4:p.Val832=
ENST00000378168.6:c.876G>T	ENSP00000367410.2:p.Val292=
ENST00000378179.7:c.1287G>T	ENSP00000367421.3:p.Val429=
ENST00000421587.6:c.2424G>T	ENSP00000400526.2:p.Val808=
ENST00000442742.6:c.2427G>T	ENSP00000398007.2:p.Val809=
NM_001126054.2:c.2427G>T	NP_001119526.1:p.Val809=
NM_001126055.2:c.2424G>T	NP_001119527.1:p.Val808=
NM_003688.3:c.2496G>T	NP_003679.2:p.Val832=
XM_005272686.3:c.2493G>T	XP_005272743.1:p.Val831=
XM_006724566.2:c.2388G>T	XP_006724629.1:p.Val796=
XM_011543993.1:c.2511G>T	XP_011542295.1:p.Val837=
XM_011543994.1:c.2475G>T	XP_011542296.1:p.Val825=
XM_011543995.1:c.2442G>T	XP_011542297.1:p.Val814=
XM_011543996.1:c.2406G>T	XP_011542298.1:p.Val802=
XM_011543997.1:c.1938G>T	XP_011542299.1:p.Val646=
XM_005272686.4:c.2493G>T	XP_005272743.1:p.Val831=
XM_006724566.3:c.2388G>T	XP_006724629.1:p.Val796=
XM_011543993.2:c.2511G>T	XP_011542295.1:p.Val837=
XM_011543994.2:c.2475G>T	XP_011542296.1:p.Val825=
XM_011543995.2:c.2442G>T	XP_011542297.1:p.Val814=
XM_011543996.2:c.2406G>T	XP_011542298.1:p.Val802=
XM_011543997.3:c.1938G>T	XP_011542299.1:p.Val646=
XM_024452473.1:c.1833G>T	XP_024308241.1:p.Val611=
NM_001367721.1:c.2511G>T MANE Select	NP_001354650.1:p.Val837=