Canonical Allele Identifier: CA412990198

Gene: CASK

Linked Data

• gnomAD v4: X-41531087-C-T
• MyVariant Identifiers: chrX:g.41390340C>T (hg19) ; chrX:g.41531087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531087C>T , CM000685.2:g.41531087C>T	GRCh38
NC_000023.10:g.41390340C>T , CM000685.1:g.41390340C>T	GRCh37
NC_000023.9:g.41275284C>T	NCBI36
NG_016754.1:g.396948G>A
NG_016754.2:g.396948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2389G>A	ENSP00000367396.2:p.Ala797Thr
ENST00000378158.6:c.2386G>A	ENSP00000367400.2:p.Ala796Thr
ENST00000378163.7:c.2440G>A MANE Select	ENSP00000367405.1:p.Ala814Thr
ENST00000378166.9:c.2338G>A	ENSP00000367408.5:p.Ala780Thr
ENST00000378168.8:c.2443G>A	ENSP00000367410.4:p.Ala815Thr
ENST00000378179.9:c.1060G>A	ENSP00000367421.4:p.Ala354Thr
ENST00000421587.8:c.2371G>A	ENSP00000400526.4:p.Ala791Thr
ENST00000442742.7:c.2302G>A	ENSP00000398007.3:p.Ala768Thr
ENST00000642499.1:n.1219G>A
ENST00000643733.1:c.212G>A
ENST00000644219.1:c.2422G>A	ENSP00000495357.1:p.Ala808Thr
ENST00000644347.1:c.2353G>A	ENSP00000494183.1:p.Ala785Thr
ENST00000645566.1:c.2425G>A	ENSP00000494788.1:p.Ala809Thr
ENST00000645937.2:n.2671G>A
ENST00000645986.2:c.2407G>A	ENSP00000494409.2:p.Ala803Thr
ENST00000646087.2:c.1762G>A	ENSP00000495510.2:p.Ala588Thr
ENST00000646120.2:c.2356G>A	ENSP00000495291.2:p.Ala786Thr
ENST00000675354.1:c.2374G>A	ENSP00000502315.1:p.Ala792Thr
ENST00000378158.5:c.2389G>A	ENSP00000367400.1:p.Ala797Thr
ENST00000378163.5:c.2440G>A	ENSP00000367405.1:p.Ala814Thr
ENST00000378166.8:c.2425G>A	ENSP00000367408.4:p.Ala809Thr
ENST00000378168.6:c.805G>A	ENSP00000367410.2:p.Ala269Thr
ENST00000378179.7:c.1216G>A	ENSP00000367421.3:p.Ala406Thr
ENST00000421587.6:c.2353G>A	ENSP00000400526.2:p.Ala785Thr
ENST00000442742.6:c.2356G>A	ENSP00000398007.2:p.Ala786Thr
NM_001126054.2:c.2356G>A	NP_001119526.1:p.Ala786Thr
NM_001126055.2:c.2353G>A	NP_001119527.1:p.Ala785Thr
NM_003688.3:c.2425G>A	NP_003679.2:p.Ala809Thr
XM_005272686.3:c.2422G>A	XP_005272743.1:p.Ala808Thr
XM_006724566.2:c.2317G>A	XP_006724629.1:p.Ala773Thr
XM_011543993.1:c.2440G>A	XP_011542295.1:p.Ala814Thr
XM_011543994.1:c.2404G>A	XP_011542296.1:p.Ala802Thr
XM_011543995.1:c.2371G>A	XP_011542297.1:p.Ala791Thr
XM_011543996.1:c.2335G>A	XP_011542298.1:p.Ala779Thr
XM_011543997.1:c.1867G>A	XP_011542299.1:p.Ala623Thr
XM_005272686.4:c.2422G>A	XP_005272743.1:p.Ala808Thr
XM_006724566.3:c.2317G>A	XP_006724629.1:p.Ala773Thr
XM_011543993.2:c.2440G>A	XP_011542295.1:p.Ala814Thr
XM_011543994.2:c.2404G>A	XP_011542296.1:p.Ala802Thr
XM_011543995.2:c.2371G>A	XP_011542297.1:p.Ala791Thr
XM_011543996.2:c.2335G>A	XP_011542298.1:p.Ala779Thr
XM_011543997.3:c.1867G>A	XP_011542299.1:p.Ala623Thr
XM_024452473.1:c.1762G>A	XP_024308241.1:p.Ala588Thr
NM_001367721.1:c.2440G>A MANE Select	NP_001354650.1:p.Ala814Thr