Canonical Allele Identifier: CA412990050

Gene: CASK

Linked Data

• gnomAD v4: X-41531048-G-A
• MyVariant Identifiers: chrX:g.41390301G>A (hg19) ; chrX:g.41531048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531048G>A , CM000685.2:g.41531048G>A	GRCh38
NC_000023.10:g.41390301G>A , CM000685.1:g.41390301G>A	GRCh37
NC_000023.9:g.41275245G>A	NCBI36
NG_016754.1:g.396987C>T
NG_016754.2:g.396987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2428C>T	ENSP00000367396.2:p.His810Tyr
ENST00000378158.6:c.2425C>T	ENSP00000367400.2:p.His809Tyr
ENST00000378163.7:c.2479C>T MANE Select	ENSP00000367405.1:p.His827Tyr
ENST00000378166.9:c.2377C>T	ENSP00000367408.5:p.His793Tyr
ENST00000378168.8:c.2482C>T	ENSP00000367410.4:p.His828Tyr
ENST00000378179.9:c.1099C>T	ENSP00000367421.4:p.His367Tyr
ENST00000421587.8:c.2410C>T	ENSP00000400526.4:p.His804Tyr
ENST00000442742.7:c.2341C>T	ENSP00000398007.3:p.His781Tyr
ENST00000642499.1:n.1258C>T
ENST00000643733.1:c.251C>T
ENST00000644219.1:c.2461C>T	ENSP00000495357.1:p.His821Tyr
ENST00000644347.1:c.2392C>T	ENSP00000494183.1:p.His798Tyr
ENST00000645566.1:c.2464C>T	ENSP00000494788.1:p.His822Tyr
ENST00000645937.2:n.2710C>T
ENST00000645986.2:c.2446C>T	ENSP00000494409.2:p.His816Tyr
ENST00000646087.2:c.1801C>T	ENSP00000495510.2:p.His601Tyr
ENST00000646120.2:c.2395C>T	ENSP00000495291.2:p.His799Tyr
ENST00000675354.1:c.2413C>T	ENSP00000502315.1:p.His805Tyr
ENST00000378158.5:c.2428C>T	ENSP00000367400.1:p.His810Tyr
ENST00000378163.5:c.2479C>T	ENSP00000367405.1:p.His827Tyr
ENST00000378166.8:c.2464C>T	ENSP00000367408.4:p.His822Tyr
ENST00000378168.6:c.844C>T	ENSP00000367410.2:p.His282Tyr
ENST00000378179.7:c.1255C>T	ENSP00000367421.3:p.His419Tyr
ENST00000421587.6:c.2392C>T	ENSP00000400526.2:p.His798Tyr
ENST00000442742.6:c.2395C>T	ENSP00000398007.2:p.His799Tyr
NM_001126054.2:c.2395C>T	NP_001119526.1:p.His799Tyr
NM_001126055.2:c.2392C>T	NP_001119527.1:p.His798Tyr
NM_003688.3:c.2464C>T	NP_003679.2:p.His822Tyr
XM_005272686.3:c.2461C>T	XP_005272743.1:p.His821Tyr
XM_006724566.2:c.2356C>T	XP_006724629.1:p.His786Tyr
XM_011543993.1:c.2479C>T	XP_011542295.1:p.His827Tyr
XM_011543994.1:c.2443C>T	XP_011542296.1:p.His815Tyr
XM_011543995.1:c.2410C>T	XP_011542297.1:p.His804Tyr
XM_011543996.1:c.2374C>T	XP_011542298.1:p.His792Tyr
XM_011543997.1:c.1906C>T	XP_011542299.1:p.His636Tyr
XM_005272686.4:c.2461C>T	XP_005272743.1:p.His821Tyr
XM_006724566.3:c.2356C>T	XP_006724629.1:p.His786Tyr
XM_011543993.2:c.2479C>T	XP_011542295.1:p.His827Tyr
XM_011543994.2:c.2443C>T	XP_011542296.1:p.His815Tyr
XM_011543995.2:c.2410C>T	XP_011542297.1:p.His804Tyr
XM_011543996.2:c.2374C>T	XP_011542298.1:p.His792Tyr
XM_011543997.3:c.1906C>T	XP_011542299.1:p.His636Tyr
XM_024452473.1:c.1801C>T	XP_024308241.1:p.His601Tyr
NM_001367721.1:c.2479C>T MANE Select	NP_001354650.1:p.His827Tyr