Canonical Allele Identifier: CA516098305

Gene: CASK

Linked Data

• gnomAD v4: X-41520459-G-A
• MyVariant Identifiers: chrX:g.41379712G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520459G>A , CM000685.2:g.41520459G>A	GRCh38
NC_000023.10:g.41379712G>A , CM000685.1:g.41379712G>A	GRCh37
NC_000023.9:g.41264656G>A	NCBI36
NG_016754.1:g.407576C>T
NG_016754.2:g.407576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2691C>T	ENSP00000367396.2:p.Cys897=
ENST00000378158.6:c.2688C>T	ENSP00000367400.2:p.Cys896=
ENST00000378163.7:c.2742C>T MANE Select	ENSP00000367405.1:p.Cys914=
ENST00000378166.9:c.2640C>T	ENSP00000367408.5:p.Cys880=
ENST00000378168.8:c.2745C>T	ENSP00000367410.4:p.Cys915=
ENST00000378179.9:c.1362C>T	ENSP00000367421.4:p.Cys454=
ENST00000421587.8:c.2673C>T	ENSP00000400526.4:p.Cys891=
ENST00000442742.7:c.2604C>T	ENSP00000398007.3:p.Cys868=
ENST00000642499.1:n.1521C>T
ENST00000642641.1:n.901C>T
ENST00000643733.1:c.541C>T
ENST00000644219.1:c.2724C>T	ENSP00000495357.1:p.Cys908=
ENST00000644347.1:c.2655C>T	ENSP00000494183.1:p.Cys885=
ENST00000645566.1:c.2727C>T	ENSP00000494788.1:p.Cys909=
ENST00000645937.2:n.2973C>T
ENST00000645986.2:c.2829C>T	ENSP00000494409.2:p.Cys943=
ENST00000646087.2:c.2064C>T	ENSP00000495510.2:p.Cys688=
ENST00000646120.2:c.2658C>T	ENSP00000495291.2:p.Cys886=
ENST00000675354.1:c.2676C>T	ENSP00000502315.1:p.Cys892=
ENST00000378158.5:c.2691C>T	ENSP00000367400.1:p.Cys897=
ENST00000378163.5:c.2742C>T	ENSP00000367405.1:p.Cys914=
ENST00000378166.8:c.2727C>T	ENSP00000367408.4:p.Cys909=
ENST00000378168.6:c.1107C>T	ENSP00000367410.2:p.Cys369=
ENST00000378179.7:c.1518C>T	ENSP00000367421.3:p.Cys506=
ENST00000421587.6:c.2655C>T	ENSP00000400526.2:p.Cys885=
ENST00000442742.6:c.2658C>T	ENSP00000398007.2:p.Cys886=
NM_001126054.2:c.2658C>T	NP_001119526.1:p.Cys886=
NM_001126055.2:c.2655C>T	NP_001119527.1:p.Cys885=
NM_003688.3:c.2727C>T	NP_003679.2:p.Cys909=
XM_005272686.3:c.2724C>T	XP_005272743.1:p.Cys908=
XM_006724566.2:c.2619C>T	XP_006724629.1:p.Cys873=
XM_011543993.1:c.2742C>T	XP_011542295.1:p.Cys914=
XM_011543994.1:c.2706C>T	XP_011542296.1:p.Cys902=
XM_011543995.1:c.2673C>T	XP_011542297.1:p.Cys891=
XM_011543996.1:c.2637C>T	XP_011542298.1:p.Cys879=
XM_011543997.1:c.2169C>T	XP_011542299.1:p.Cys723=
XM_005272686.4:c.2724C>T	XP_005272743.1:p.Cys908=
XM_006724566.3:c.2619C>T	XP_006724629.1:p.Cys873=
XM_011543993.2:c.2742C>T	XP_011542295.1:p.Cys914=
XM_011543994.2:c.2706C>T	XP_011542296.1:p.Cys902=
XM_011543995.2:c.2673C>T	XP_011542297.1:p.Cys891=
XM_011543996.2:c.2637C>T	XP_011542298.1:p.Cys879=
XM_011543997.3:c.2169C>T	XP_011542299.1:p.Cys723=
XM_024452473.1:c.2064C>T	XP_024308241.1:p.Cys688=
NM_001367721.1:c.2742C>T MANE Select	NP_001354650.1:p.Cys914=