Canonical Allele Identifier: CA516098303

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379709T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520456T>C , CM000685.2:g.41520456T>C	GRCh38
NC_000023.10:g.41379709T>C , CM000685.1:g.41379709T>C	GRCh37
NC_000023.9:g.41264653T>C	NCBI36
NG_016754.1:g.407579A>G
NG_016754.2:g.407579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2694A>G	ENSP00000367396.2:p.Thr898=
ENST00000378158.6:c.2691A>G	ENSP00000367400.2:p.Thr897=
ENST00000378163.7:c.2745A>G MANE Select	ENSP00000367405.1:p.Thr915=
ENST00000378166.9:c.2643A>G	ENSP00000367408.5:p.Thr881=
ENST00000378168.8:c.2748A>G	ENSP00000367410.4:p.Thr916=
ENST00000378179.9:c.1365A>G	ENSP00000367421.4:p.Thr455=
ENST00000421587.8:c.2676A>G	ENSP00000400526.4:p.Thr892=
ENST00000442742.7:c.2607A>G	ENSP00000398007.3:p.Thr869=
ENST00000642499.1:n.1524A>G
ENST00000642641.1:n.904A>G
ENST00000643733.1:c.544A>G
ENST00000644219.1:c.2727A>G	ENSP00000495357.1:p.Thr909=
ENST00000644347.1:c.2658A>G	ENSP00000494183.1:p.Thr886=
ENST00000645566.1:c.2730A>G	ENSP00000494788.1:p.Thr910=
ENST00000645937.2:n.2976A>G
ENST00000645986.2:c.2832A>G	ENSP00000494409.2:p.Thr944=
ENST00000646087.2:c.2067A>G	ENSP00000495510.2:p.Thr689=
ENST00000646120.2:c.2661A>G	ENSP00000495291.2:p.Thr887=
ENST00000675354.1:c.2679A>G	ENSP00000502315.1:p.Thr893=
ENST00000378158.5:c.2694A>G	ENSP00000367400.1:p.Thr898=
ENST00000378163.5:c.2745A>G	ENSP00000367405.1:p.Thr915=
ENST00000378166.8:c.2730A>G	ENSP00000367408.4:p.Thr910=
ENST00000378168.6:c.1110A>G	ENSP00000367410.2:p.Thr370=
ENST00000378179.7:c.1521A>G	ENSP00000367421.3:p.Thr507=
ENST00000421587.6:c.2658A>G	ENSP00000400526.2:p.Thr886=
ENST00000442742.6:c.2661A>G	ENSP00000398007.2:p.Thr887=
NM_001126054.2:c.2661A>G	NP_001119526.1:p.Thr887=
NM_001126055.2:c.2658A>G	NP_001119527.1:p.Thr886=
NM_003688.3:c.2730A>G	NP_003679.2:p.Thr910=
XM_005272686.3:c.2727A>G	XP_005272743.1:p.Thr909=
XM_006724566.2:c.2622A>G	XP_006724629.1:p.Thr874=
XM_011543993.1:c.2745A>G	XP_011542295.1:p.Thr915=
XM_011543994.1:c.2709A>G	XP_011542296.1:p.Thr903=
XM_011543995.1:c.2676A>G	XP_011542297.1:p.Thr892=
XM_011543996.1:c.2640A>G	XP_011542298.1:p.Thr880=
XM_011543997.1:c.2172A>G	XP_011542299.1:p.Thr724=
XM_005272686.4:c.2727A>G	XP_005272743.1:p.Thr909=
XM_006724566.3:c.2622A>G	XP_006724629.1:p.Thr874=
XM_011543993.2:c.2745A>G	XP_011542295.1:p.Thr915=
XM_011543994.2:c.2709A>G	XP_011542296.1:p.Thr903=
XM_011543995.2:c.2676A>G	XP_011542297.1:p.Thr892=
XM_011543996.2:c.2640A>G	XP_011542298.1:p.Thr880=
XM_011543997.3:c.2172A>G	XP_011542299.1:p.Thr724=
XM_024452473.1:c.2067A>G	XP_024308241.1:p.Thr689=
NM_001367721.1:c.2745A>G MANE Select	NP_001354650.1:p.Thr915=