Canonical Allele Identifier: CA412990053

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390301G>T (hg19) ; chrX:g.41531048G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2428C>A	ENSP00000367396.2:p.His810Asn
ENST00000378158.6:c.2425C>A	ENSP00000367400.2:p.His809Asn
ENST00000378163.7:c.2479C>A MANE Select	ENSP00000367405.1:p.His827Asn
ENST00000378166.9:c.2377C>A	ENSP00000367408.5:p.His793Asn
ENST00000378168.8:c.2482C>A	ENSP00000367410.4:p.His828Asn
ENST00000378179.9:c.1099C>A	ENSP00000367421.4:p.His367Asn
ENST00000421587.8:c.2410C>A	ENSP00000400526.4:p.His804Asn
ENST00000442742.7:c.2341C>A	ENSP00000398007.3:p.His781Asn
ENST00000642499.1:n.1258C>A
ENST00000643733.1:c.251C>A
ENST00000644219.1:c.2461C>A	ENSP00000495357.1:p.His821Asn
ENST00000644347.1:c.2392C>A	ENSP00000494183.1:p.His798Asn
ENST00000645566.1:c.2464C>A	ENSP00000494788.1:p.His822Asn
ENST00000645937.2:n.2710C>A
ENST00000645986.2:c.2446C>A	ENSP00000494409.2:p.His816Asn
ENST00000646087.2:c.1801C>A	ENSP00000495510.2:p.His601Asn
ENST00000646120.2:c.2395C>A	ENSP00000495291.2:p.His799Asn
ENST00000675354.1:c.2413C>A	ENSP00000502315.1:p.His805Asn
ENST00000378158.5:c.2428C>A	ENSP00000367400.1:p.His810Asn
ENST00000378163.5:c.2479C>A	ENSP00000367405.1:p.His827Asn
ENST00000378166.8:c.2464C>A	ENSP00000367408.4:p.His822Asn
ENST00000378168.6:c.844C>A	ENSP00000367410.2:p.His282Asn
ENST00000378179.7:c.1255C>A	ENSP00000367421.3:p.His419Asn
ENST00000421587.6:c.2392C>A	ENSP00000400526.2:p.His798Asn
ENST00000442742.6:c.2395C>A	ENSP00000398007.2:p.His799Asn
NM_001126054.2:c.2395C>A	NP_001119526.1:p.His799Asn
NM_001126055.2:c.2392C>A	NP_001119527.1:p.His798Asn
NM_003688.3:c.2464C>A	NP_003679.2:p.His822Asn
XM_005272686.3:c.2461C>A	XP_005272743.1:p.His821Asn
XM_006724566.2:c.2356C>A	XP_006724629.1:p.His786Asn
XM_011543993.1:c.2479C>A	XP_011542295.1:p.His827Asn
XM_011543994.1:c.2443C>A	XP_011542296.1:p.His815Asn
XM_011543995.1:c.2410C>A	XP_011542297.1:p.His804Asn
XM_011543996.1:c.2374C>A	XP_011542298.1:p.His792Asn
XM_011543997.1:c.1906C>A	XP_011542299.1:p.His636Asn
XM_005272686.4:c.2461C>A	XP_005272743.1:p.His821Asn
XM_006724566.3:c.2356C>A	XP_006724629.1:p.His786Asn
XM_011543993.2:c.2479C>A	XP_011542295.1:p.His827Asn
XM_011543994.2:c.2443C>A	XP_011542296.1:p.His815Asn
XM_011543995.2:c.2410C>A	XP_011542297.1:p.His804Asn
XM_011543996.2:c.2374C>A	XP_011542298.1:p.His792Asn
XM_011543997.3:c.1906C>A	XP_011542299.1:p.His636Asn
XM_024452473.1:c.1801C>A	XP_024308241.1:p.His601Asn
NM_001367721.1:c.2479C>A MANE Select	NP_001354650.1:p.His827Asn