Canonical Allele Identifier: CA329232233

Gene: CASK

Linked Data

• ClinVar Variation Id: 537749
• ClinVar RCV Id: RCV000646772 ; RCV002275111 ; RCV003437365
• dbSNP Id: rs1021774904
• gnomAD v4: X-41578435-C-T
• MyVariant Identifiers: chrX:g.41437688C>T (hg19) ; chrX:g.41578435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41578435C>T , CM000685.2:g.41578435C>T	GRCh38
NC_000023.10:g.41437688C>T , CM000685.1:g.41437688C>T	GRCh37
NC_000023.9:g.41322632C>T	NCBI36
NG_016754.1:g.349600G>A
NG_016754.2:g.349600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.1408G>A	ENSP00000367396.2:p.Gly470Ser
ENST00000378158.6:c.1390G>A	ENSP00000367400.2:p.Gly464Ser
ENST00000378163.7:c.1408G>A MANE Select	ENSP00000367405.1:p.Gly470Ser
ENST00000378166.9:c.1390G>A	ENSP00000367408.5:p.Gly464Ser
ENST00000378168.8:c.1426G>A	ENSP00000367410.4:p.Gly476Ser
ENST00000378179.9:c.97G>A	ENSP00000367421.4:p.Gly33Ser
ENST00000421587.8:c.1408G>A	ENSP00000400526.4:p.Gly470Ser
ENST00000442742.7:c.1390G>A	ENSP00000398007.3:p.Gly464Ser
ENST00000472704.3:n.19G>A
ENST00000643043.2:c.853G>A	ENSP00000493518.2:p.Gly285Ser
ENST00000644219.1:c.1390G>A	ENSP00000495357.1:p.Gly464Ser
ENST00000644347.1:c.1390G>A	ENSP00000494183.1:p.Gly464Ser
ENST00000645566.1:c.1408G>A	ENSP00000494788.1:p.Gly470Ser
ENST00000645937.2:n.1708G>A
ENST00000645986.2:c.1390G>A	ENSP00000494409.2:p.Gly464Ser
ENST00000646087.2:c.835G>A	ENSP00000495510.2:p.Gly279Ser
ENST00000646120.2:c.1408G>A	ENSP00000495291.2:p.Gly470Ser
ENST00000675354.1:c.1426G>A	ENSP00000502315.1:p.Gly476Ser
ENST00000378154.1:c.1408G>A	ENSP00000367396.1:p.Gly470Ser
ENST00000378158.5:c.1408G>A	ENSP00000367400.1:p.Gly470Ser
ENST00000378163.5:c.1408G>A	ENSP00000367405.1:p.Gly470Ser
ENST00000378166.8:c.1408G>A	ENSP00000367408.4:p.Gly470Ser
ENST00000378179.7:c.253G>A	ENSP00000367421.3:p.Gly85Ser
ENST00000421587.6:c.1390G>A	ENSP00000400526.2:p.Gly464Ser
ENST00000442742.6:c.1408G>A	ENSP00000398007.2:p.Gly470Ser
ENST00000472704.1:n.19G>A
NM_001126054.2:c.1408G>A	NP_001119526.1:p.Gly470Ser
NM_001126055.2:c.1390G>A	NP_001119527.1:p.Gly464Ser
NM_003688.3:c.1408G>A	NP_003679.2:p.Gly470Ser
XM_005272686.3:c.1390G>A	XP_005272743.1:p.Gly464Ser
XM_006724566.2:c.1390G>A	XP_006724629.1:p.Gly464Ser
XM_011543993.1:c.1408G>A	XP_011542295.1:p.Gly470Ser
XM_011543994.1:c.1408G>A	XP_011542296.1:p.Gly470Ser
XM_011543995.1:c.1408G>A	XP_011542297.1:p.Gly470Ser
XM_011543996.1:c.1408G>A	XP_011542298.1:p.Gly470Ser
XM_011543997.1:c.835G>A	XP_011542299.1:p.Gly279Ser
XM_005272686.4:c.1390G>A	XP_005272743.1:p.Gly464Ser
XM_006724566.3:c.1390G>A	XP_006724629.1:p.Gly464Ser
XM_011543993.2:c.1408G>A	XP_011542295.1:p.Gly470Ser
XM_011543994.2:c.1408G>A	XP_011542296.1:p.Gly470Ser
XM_011543995.2:c.1408G>A	XP_011542297.1:p.Gly470Ser
XM_011543996.2:c.1408G>A	XP_011542298.1:p.Gly470Ser
XM_011543997.3:c.835G>A	XP_011542299.1:p.Gly279Ser
XM_024452473.1:c.835G>A	XP_024308241.1:p.Gly279Ser
NM_001367721.1:c.1408G>A MANE Select	NP_001354650.1:p.Gly470Ser