Canonical Allele Identifier: CA412990045

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390300T>A (hg19) ; chrX:g.41531047T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531047T>A , CM000685.2:g.41531047T>A	GRCh38
NC_000023.10:g.41390300T>A , CM000685.1:g.41390300T>A	GRCh37
NC_000023.9:g.41275244T>A	NCBI36
NG_016754.1:g.396988A>T
NG_016754.2:g.396988A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2429A>T	ENSP00000367396.2:p.His810Leu
ENST00000378158.6:c.2426A>T	ENSP00000367400.2:p.His809Leu
ENST00000378163.7:c.2480A>T MANE Select	ENSP00000367405.1:p.His827Leu
ENST00000378166.9:c.2378A>T	ENSP00000367408.5:p.His793Leu
ENST00000378168.8:c.2483A>T	ENSP00000367410.4:p.His828Leu
ENST00000378179.9:c.1100A>T	ENSP00000367421.4:p.His367Leu
ENST00000421587.8:c.2411A>T	ENSP00000400526.4:p.His804Leu
ENST00000442742.7:c.2342A>T	ENSP00000398007.3:p.His781Leu
ENST00000642499.1:n.1259A>T
ENST00000643733.1:c.252A>T
ENST00000644219.1:c.2462A>T	ENSP00000495357.1:p.His821Leu
ENST00000644347.1:c.2393A>T	ENSP00000494183.1:p.His798Leu
ENST00000645566.1:c.2465A>T	ENSP00000494788.1:p.His822Leu
ENST00000645937.2:n.2711A>T
ENST00000645986.2:c.2447A>T	ENSP00000494409.2:p.His816Leu
ENST00000646087.2:c.1802A>T	ENSP00000495510.2:p.His601Leu
ENST00000646120.2:c.2396A>T	ENSP00000495291.2:p.His799Leu
ENST00000675354.1:c.2414A>T	ENSP00000502315.1:p.His805Leu
ENST00000378158.5:c.2429A>T	ENSP00000367400.1:p.His810Leu
ENST00000378163.5:c.2480A>T	ENSP00000367405.1:p.His827Leu
ENST00000378166.8:c.2465A>T	ENSP00000367408.4:p.His822Leu
ENST00000378168.6:c.845A>T	ENSP00000367410.2:p.His282Leu
ENST00000378179.7:c.1256A>T	ENSP00000367421.3:p.His419Leu
ENST00000421587.6:c.2393A>T	ENSP00000400526.2:p.His798Leu
ENST00000442742.6:c.2396A>T	ENSP00000398007.2:p.His799Leu
NM_001126054.2:c.2396A>T	NP_001119526.1:p.His799Leu
NM_001126055.2:c.2393A>T	NP_001119527.1:p.His798Leu
NM_003688.3:c.2465A>T	NP_003679.2:p.His822Leu
XM_005272686.3:c.2462A>T	XP_005272743.1:p.His821Leu
XM_006724566.2:c.2357A>T	XP_006724629.1:p.His786Leu
XM_011543993.1:c.2480A>T	XP_011542295.1:p.His827Leu
XM_011543994.1:c.2444A>T	XP_011542296.1:p.His815Leu
XM_011543995.1:c.2411A>T	XP_011542297.1:p.His804Leu
XM_011543996.1:c.2375A>T	XP_011542298.1:p.His792Leu
XM_011543997.1:c.1907A>T	XP_011542299.1:p.His636Leu
XM_005272686.4:c.2462A>T	XP_005272743.1:p.His821Leu
XM_006724566.3:c.2357A>T	XP_006724629.1:p.His786Leu
XM_011543993.2:c.2480A>T	XP_011542295.1:p.His827Leu
XM_011543994.2:c.2444A>T	XP_011542296.1:p.His815Leu
XM_011543995.2:c.2411A>T	XP_011542297.1:p.His804Leu
XM_011543996.2:c.2375A>T	XP_011542298.1:p.His792Leu
XM_011543997.3:c.1907A>T	XP_011542299.1:p.His636Leu
XM_024452473.1:c.1802A>T	XP_024308241.1:p.His601Leu
NM_001367721.1:c.2480A>T MANE Select	NP_001354650.1:p.His827Leu