Canonical Allele Identifier: CA412988723

Gene: CASK

Linked Data

• gnomAD v4: X-41520460-C-A
• MyVariant Identifiers: chrX:g.41379713C>A (hg19) ; chrX:g.41520460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520460C>A , CM000685.2:g.41520460C>A	GRCh38
NC_000023.10:g.41379713C>A , CM000685.1:g.41379713C>A	GRCh37
NC_000023.9:g.41264657C>A	NCBI36
NG_016754.1:g.407575G>T
NG_016754.2:g.407575G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2690G>T	ENSP00000367396.2:p.Cys897Phe
ENST00000378158.6:c.2687G>T	ENSP00000367400.2:p.Cys896Phe
ENST00000378163.7:c.2741G>T MANE Select	ENSP00000367405.1:p.Cys914Phe
ENST00000378166.9:c.2639G>T	ENSP00000367408.5:p.Cys880Phe
ENST00000378168.8:c.2744G>T	ENSP00000367410.4:p.Cys915Phe
ENST00000378179.9:c.1361G>T	ENSP00000367421.4:p.Cys454Phe
ENST00000421587.8:c.2672G>T	ENSP00000400526.4:p.Cys891Phe
ENST00000442742.7:c.2603G>T	ENSP00000398007.3:p.Cys868Phe
ENST00000642499.1:n.1520G>T
ENST00000642641.1:n.900G>T
ENST00000643733.1:c.540G>T
ENST00000644219.1:c.2723G>T	ENSP00000495357.1:p.Cys908Phe
ENST00000644347.1:c.2654G>T	ENSP00000494183.1:p.Cys885Phe
ENST00000645566.1:c.2726G>T	ENSP00000494788.1:p.Cys909Phe
ENST00000645937.2:n.2972G>T
ENST00000645986.2:c.2828G>T	ENSP00000494409.2:p.Cys943Phe
ENST00000646087.2:c.2063G>T	ENSP00000495510.2:p.Cys688Phe
ENST00000646120.2:c.2657G>T	ENSP00000495291.2:p.Cys886Phe
ENST00000675354.1:c.2675G>T	ENSP00000502315.1:p.Cys892Phe
ENST00000378158.5:c.2690G>T	ENSP00000367400.1:p.Cys897Phe
ENST00000378163.5:c.2741G>T	ENSP00000367405.1:p.Cys914Phe
ENST00000378166.8:c.2726G>T	ENSP00000367408.4:p.Cys909Phe
ENST00000378168.6:c.1106G>T	ENSP00000367410.2:p.Cys369Phe
ENST00000378179.7:c.1517G>T	ENSP00000367421.3:p.Cys506Phe
ENST00000421587.6:c.2654G>T	ENSP00000400526.2:p.Cys885Phe
ENST00000442742.6:c.2657G>T	ENSP00000398007.2:p.Cys886Phe
NM_001126054.2:c.2657G>T	NP_001119526.1:p.Cys886Phe
NM_001126055.2:c.2654G>T	NP_001119527.1:p.Cys885Phe
NM_003688.3:c.2726G>T	NP_003679.2:p.Cys909Phe
XM_005272686.3:c.2723G>T	XP_005272743.1:p.Cys908Phe
XM_006724566.2:c.2618G>T	XP_006724629.1:p.Cys873Phe
XM_011543993.1:c.2741G>T	XP_011542295.1:p.Cys914Phe
XM_011543994.1:c.2705G>T	XP_011542296.1:p.Cys902Phe
XM_011543995.1:c.2672G>T	XP_011542297.1:p.Cys891Phe
XM_011543996.1:c.2636G>T	XP_011542298.1:p.Cys879Phe
XM_011543997.1:c.2168G>T	XP_011542299.1:p.Cys723Phe
XM_005272686.4:c.2723G>T	XP_005272743.1:p.Cys908Phe
XM_006724566.3:c.2618G>T	XP_006724629.1:p.Cys873Phe
XM_011543993.2:c.2741G>T	XP_011542295.1:p.Cys914Phe
XM_011543994.2:c.2705G>T	XP_011542296.1:p.Cys902Phe
XM_011543995.2:c.2672G>T	XP_011542297.1:p.Cys891Phe
XM_011543996.2:c.2636G>T	XP_011542298.1:p.Cys879Phe
XM_011543997.3:c.2168G>T	XP_011542299.1:p.Cys723Phe
XM_024452473.1:c.2063G>T	XP_024308241.1:p.Cys688Phe
NM_001367721.1:c.2741G>T MANE Select	NP_001354650.1:p.Cys914Phe