Canonical Allele Identifier: CA516098296

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379703T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520450T>A , CM000685.2:g.41520450T>A	GRCh38
NC_000023.10:g.41379703T>A , CM000685.1:g.41379703T>A	GRCh37
NC_000023.9:g.41264647T>A	NCBI36
NG_016754.1:g.407585A>T
NG_016754.2:g.407585A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2700A>T	ENSP00000367396.2:p.Pro900=
ENST00000378158.6:c.2697A>T	ENSP00000367400.2:p.Pro899=
ENST00000378163.7:c.2751A>T MANE Select	ENSP00000367405.1:p.Pro917=
ENST00000378166.9:c.2649A>T	ENSP00000367408.5:p.Pro883=
ENST00000378168.8:c.2754A>T	ENSP00000367410.4:p.Pro918=
ENST00000378179.9:c.1371A>T	ENSP00000367421.4:p.Pro457=
ENST00000421587.8:c.2682A>T	ENSP00000400526.4:p.Pro894=
ENST00000442742.7:c.2613A>T	ENSP00000398007.3:p.Pro871=
ENST00000642499.1:n.1530A>T
ENST00000642641.1:n.910A>T
ENST00000643733.1:c.550A>T
ENST00000644219.1:c.2733A>T	ENSP00000495357.1:p.Pro911=
ENST00000644347.1:c.2664A>T	ENSP00000494183.1:p.Pro888=
ENST00000645566.1:c.2736A>T	ENSP00000494788.1:p.Pro912=
ENST00000645937.2:n.2982A>T
ENST00000645986.2:c.2838A>T	ENSP00000494409.2:p.Pro946=
ENST00000646087.2:c.2073A>T	ENSP00000495510.2:p.Pro691=
ENST00000646120.2:c.2667A>T	ENSP00000495291.2:p.Pro889=
ENST00000675354.1:c.2685A>T	ENSP00000502315.1:p.Pro895=
ENST00000378158.5:c.2700A>T	ENSP00000367400.1:p.Pro900=
ENST00000378163.5:c.2751A>T	ENSP00000367405.1:p.Pro917=
ENST00000378166.8:c.2736A>T	ENSP00000367408.4:p.Pro912=
ENST00000378168.6:c.1116A>T	ENSP00000367410.2:p.Pro372=
ENST00000378179.7:c.1527A>T	ENSP00000367421.3:p.Pro509=
ENST00000421587.6:c.2664A>T	ENSP00000400526.2:p.Pro888=
ENST00000442742.6:c.2667A>T	ENSP00000398007.2:p.Pro889=
NM_001126054.2:c.2667A>T	NP_001119526.1:p.Pro889=
NM_001126055.2:c.2664A>T	NP_001119527.1:p.Pro888=
NM_003688.3:c.2736A>T	NP_003679.2:p.Pro912=
XM_005272686.3:c.2733A>T	XP_005272743.1:p.Pro911=
XM_006724566.2:c.2628A>T	XP_006724629.1:p.Pro876=
XM_011543993.1:c.2751A>T	XP_011542295.1:p.Pro917=
XM_011543994.1:c.2715A>T	XP_011542296.1:p.Pro905=
XM_011543995.1:c.2682A>T	XP_011542297.1:p.Pro894=
XM_011543996.1:c.2646A>T	XP_011542298.1:p.Pro882=
XM_011543997.1:c.2178A>T	XP_011542299.1:p.Pro726=
XM_005272686.4:c.2733A>T	XP_005272743.1:p.Pro911=
XM_006724566.3:c.2628A>T	XP_006724629.1:p.Pro876=
XM_011543993.2:c.2751A>T	XP_011542295.1:p.Pro917=
XM_011543994.2:c.2715A>T	XP_011542296.1:p.Pro905=
XM_011543995.2:c.2682A>T	XP_011542297.1:p.Pro894=
XM_011543996.2:c.2646A>T	XP_011542298.1:p.Pro882=
XM_011543997.3:c.2178A>T	XP_011542299.1:p.Pro726=
XM_024452473.1:c.2073A>T	XP_024308241.1:p.Pro691=
NM_001367721.1:c.2751A>T MANE Select	NP_001354650.1:p.Pro917=