Canonical Allele Identifier: CA329226819
Gene: CASK HGNC NCBI

Linked Data

dbSNP Id: rs773201836
gnomAD v4: X-41520354-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41520354C>T , CM000685.2:g.41520354C>T GRCh38
NC_000023.10:g.41379607C>T , CM000685.1:g.41379607C>T GRCh37
NC_000023.9:g.41264551C>T NCBI36
NG_016754.1:g.407681G>A
NG_016754.2:g.407681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378154.3:c.*66G>A ENSP00000367396.2:n.*66G>A
ENST00000378158.6:c.*66G>A ENSP00000367400.2:n.*66G>A
ENST00000378163.7:c.*66G>A MANE Select ENSP00000367405.1:n.*66G>A
ENST00000378166.9:c.*66G>A ENSP00000367408.5:n.*66G>A
ENST00000378168.8:c.*66G>A ENSP00000367410.4:n.*66G>A
ENST00000378179.9:c.*66G>A ENSP00000367421.4:n.*66G>A
ENST00000421587.8:c.*66G>A ENSP00000400526.4:n.*66G>A
ENST00000442742.7:c.*66G>A ENSP00000398007.3:n.*66G>A
ENST00000642499.1:n.1626G>A
ENST00000642641.1:n.1006G>A
ENST00000643733.1:c.646G>A
ENST00000644219.1:c.*66G>A ENSP00000495357.1:n.*66G>A
ENST00000644347.1:c.*66G>A ENSP00000494183.1:n.*66G>A
ENST00000645566.1:c.*66G>A ENSP00000494788.1:n.*66G>A
ENST00000645937.2:n.3078G>A
ENST00000645986.2:c.*66G>A ENSP00000494409.2:n.*66G>A
ENST00000646087.2:c.*66G>A ENSP00000495510.2:n.*66G>A
ENST00000646120.2:c.*66G>A ENSP00000495291.2:n.*66G>A
ENST00000675354.1:c.*66G>A ENSP00000502315.1:n.*66G>A
ENST00000378158.5:c.*66G>A ENSP00000367400.1:n.*66G>A
ENST00000378163.5:c.*66G>A ENSP00000367405.1:n.*66G>A
ENST00000378166.8:c.*66G>A ENSP00000367408.4:n.*66G>A
ENST00000378168.6:c.1212G>A ENSP00000367410.2:n.1212G>A
ENST00000378179.7:c.*66G>A ENSP00000367421.3:n.*66G>A
ENST00000421587.6:c.*66G>A ENSP00000400526.2:n.*66G>A
ENST00000442742.6:c.*66G>A ENSP00000398007.2:n.*66G>A
NM_001126054.2:c.*66G>A NP_001119526.1:n.*66G>A
NM_001126055.2:c.*66G>A NP_001119527.1:n.*66G>A
NM_003688.3:c.*66G>A NP_003679.2:n.*66G>A
XM_005272686.3:c.*66G>A XP_005272743.1:n.*66G>A
XM_006724566.2:c.*66G>A XP_006724629.1:n.*66G>A
XM_011543993.1:c.*66G>A XP_011542295.1:n.*66G>A
XM_011543994.1:c.*66G>A XP_011542296.1:n.*66G>A
XM_011543995.1:c.*66G>A XP_011542297.1:n.*66G>A
XM_011543996.1:c.*66G>A XP_011542298.1:n.*66G>A
XM_011543997.1:c.*66G>A XP_011542299.1:n.*66G>A
XM_005272686.4:c.*66G>A XP_005272743.1:n.*66G>A
XM_006724566.3:c.*66G>A XP_006724629.1:n.*66G>A
XM_011543993.2:c.*66G>A XP_011542295.1:n.*66G>A
XM_011543994.2:c.*66G>A XP_011542296.1:n.*66G>A
XM_011543995.2:c.*66G>A XP_011542297.1:n.*66G>A
XM_011543996.2:c.*66G>A XP_011542298.1:n.*66G>A
XM_011543997.3:c.*66G>A XP_011542299.1:n.*66G>A
XM_024452473.1:c.*66G>A XP_024308241.1:n.*66G>A
NM_001367721.1:c.*66G>A MANE Select NP_001354650.1:n.*66G>A