Canonical Allele Identifier: CA412989049

Gene: CASK

Linked Data

• ClinVar Variation Id: 433537
• ClinVar RCV Id: RCV000502216
• dbSNP Id: rs1555972599
• MyVariant Identifiers: chrX:g.41383203C>A (hg19) ; chrX:g.41523950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41523950C>A , CM000685.2:g.41523950C>A	GRCh38
NC_000023.10:g.41383203C>A , CM000685.1:g.41383203C>A	GRCh37
NC_000023.9:g.41268147C>A	NCBI36
NG_016754.1:g.404085G>T
NG_016754.2:g.404085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2553+1G>T	ENSP00000367396.2:n.2553+1G>T
ENST00000378158.6:c.2550+1G>T	ENSP00000367400.2:n.2550+1G>T
ENST00000378163.7:c.2604+1G>T MANE Select	ENSP00000367405.1:n.2604+1G>T
ENST00000378166.9:c.2502+1G>T	ENSP00000367408.5:n.2502+1G>T
ENST00000378168.8:c.2607+1G>T	ENSP00000367410.4:n.2607+1G>T
ENST00000378179.9:c.1224+1G>T	ENSP00000367421.4:n.1224+1G>T
ENST00000421587.8:c.2535+1G>T	ENSP00000400526.4:n.2535+1G>T
ENST00000442742.7:c.2466+1G>T	ENSP00000398007.3:n.2466+1G>T
ENST00000642499.1:n.1383+1G>T
ENST00000642641.1:n.763+1G>T
ENST00000643733.1:c.376+1G>T
ENST00000644219.1:c.2586+1G>T	ENSP00000495357.1:n.2586+1G>T
ENST00000644347.1:c.2517+1G>T	ENSP00000494183.1:n.2517+1G>T
ENST00000645566.1:c.2589+1G>T	ENSP00000494788.1:n.2589+1G>T
ENST00000645937.2:n.2835+1G>T
ENST00000645986.2:c.2691+1G>T	ENSP00000494409.2:n.2691+1G>T
ENST00000646087.2:c.1926+1G>T	ENSP00000495510.2:n.1926+1G>T
ENST00000646120.2:c.2520+1G>T	ENSP00000495291.2:n.2520+1G>T
ENST00000675354.1:c.2538+1G>T	ENSP00000502315.1:n.2538+1G>T
ENST00000378158.5:c.2553+1G>T	ENSP00000367400.1:n.2553+1G>T
ENST00000378163.5:c.2604+1G>T	ENSP00000367405.1:n.2604+1G>T
ENST00000378166.8:c.2589+1G>T	ENSP00000367408.4:n.2589+1G>T
ENST00000378168.6:c.969+1G>T	ENSP00000367410.2:n.969+1G>T
ENST00000378179.7:c.1380+1G>T	ENSP00000367421.3:n.1380+1G>T
ENST00000421587.6:c.2517+1G>T	ENSP00000400526.2:n.2517+1G>T
ENST00000442742.6:c.2520+1G>T	ENSP00000398007.2:n.2520+1G>T
NM_001126054.2:c.2520+1G>T	NP_001119526.1:n.2520+1G>T
NM_001126055.2:c.2517+1G>T	NP_001119527.1:n.2517+1G>T
NM_003688.3:c.2589+1G>T	NP_003679.2:n.2589+1G>T
XM_005272686.3:c.2586+1G>T	XP_005272743.1:n.2586+1G>T
XM_006724566.2:c.2481+1G>T	XP_006724629.1:n.2481+1G>T
XM_011543993.1:c.2604+1G>T	XP_011542295.1:n.2604+1G>T
XM_011543994.1:c.2568+1G>T	XP_011542296.1:n.2568+1G>T
XM_011543995.1:c.2535+1G>T	XP_011542297.1:n.2535+1G>T
XM_011543996.1:c.2499+1G>T	XP_011542298.1:n.2499+1G>T
XM_011543997.1:c.2031+1G>T	XP_011542299.1:n.2031+1G>T
XM_005272686.4:c.2586+1G>T	XP_005272743.1:n.2586+1G>T
XM_006724566.3:c.2481+1G>T	XP_006724629.1:n.2481+1G>T
XM_011543993.2:c.2604+1G>T	XP_011542295.1:n.2604+1G>T
XM_011543994.2:c.2568+1G>T	XP_011542296.1:n.2568+1G>T
XM_011543995.2:c.2535+1G>T	XP_011542297.1:n.2535+1G>T
XM_011543996.2:c.2499+1G>T	XP_011542298.1:n.2499+1G>T
XM_011543997.3:c.2031+1G>T	XP_011542299.1:n.2031+1G>T
XM_024452473.1:c.1926+1G>T	XP_024308241.1:n.1926+1G>T
NM_001367721.1:c.2604+1G>T MANE Select	NP_001354650.1:n.2604+1G>T