Canonical Allele Identifier: CA641904693

Gene: CASK

Linked Data

• dbSNP Id: rs1352635091
• gnomAD v2: X-41390211-T-C
• gnomAD v3: X-41530958-T-C
• gnomAD v4: X-41530958-T-C
• MyVariant Identifiers: chrX:g.41390211T>C (hg19) ; chrX:g.41530958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41530958T>C , CM000685.2:g.41530958T>C	GRCh38
NC_000023.10:g.41390211T>C , CM000685.1:g.41390211T>C	GRCh37
NC_000023.9:g.41275155T>C	NCBI36
NG_016754.1:g.397077A>G
NG_016754.2:g.397077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2469+49A>G	ENSP00000367396.2:n.2469+49A>G
ENST00000378158.6:c.2466+49A>G	ENSP00000367400.2:n.2466+49A>G
ENST00000378163.7:c.2520+49A>G MANE Select	ENSP00000367405.1:n.2520+49A>G
ENST00000378166.9:c.2418+49A>G	ENSP00000367408.5:n.2418+49A>G
ENST00000378168.8:c.2523+49A>G	ENSP00000367410.4:n.2523+49A>G
ENST00000378179.9:c.1140+49A>G	ENSP00000367421.4:n.1140+49A>G
ENST00000421587.8:c.2451+49A>G	ENSP00000400526.4:n.2451+49A>G
ENST00000442742.7:c.2382+49A>G	ENSP00000398007.3:n.2382+49A>G
ENST00000642499.1:n.1299+49A>G
ENST00000643733.1:c.292+49A>G
ENST00000644219.1:c.2502+49A>G	ENSP00000495357.1:n.2502+49A>G
ENST00000644347.1:c.2433+49A>G	ENSP00000494183.1:n.2433+49A>G
ENST00000645566.1:c.2505+49A>G	ENSP00000494788.1:n.2505+49A>G
ENST00000645937.2:n.2751+49A>G
ENST00000645986.2:c.2487+49A>G	ENSP00000494409.2:n.2487+49A>G
ENST00000646087.2:c.1842+49A>G	ENSP00000495510.2:n.1842+49A>G
ENST00000646120.2:c.2436+49A>G	ENSP00000495291.2:n.2436+49A>G
ENST00000675354.1:c.2454+49A>G	ENSP00000502315.1:n.2454+49A>G
ENST00000378158.5:c.2469+49A>G	ENSP00000367400.1:n.2469+49A>G
ENST00000378163.5:c.2520+49A>G	ENSP00000367405.1:n.2520+49A>G
ENST00000378166.8:c.2505+49A>G	ENSP00000367408.4:n.2505+49A>G
ENST00000378168.6:c.885+49A>G	ENSP00000367410.2:n.885+49A>G
ENST00000378179.7:c.1296+49A>G	ENSP00000367421.3:n.1296+49A>G
ENST00000421587.6:c.2433+49A>G	ENSP00000400526.2:n.2433+49A>G
ENST00000442742.6:c.2436+49A>G	ENSP00000398007.2:n.2436+49A>G
NM_001126054.2:c.2436+49A>G	NP_001119526.1:n.2436+49A>G
NM_001126055.2:c.2433+49A>G	NP_001119527.1:n.2433+49A>G
NM_003688.3:c.2505+49A>G	NP_003679.2:n.2505+49A>G
XM_005272686.3:c.2502+49A>G	XP_005272743.1:n.2502+49A>G
XM_006724566.2:c.2397+49A>G	XP_006724629.1:n.2397+49A>G
XM_011543993.1:c.2520+49A>G	XP_011542295.1:n.2520+49A>G
XM_011543994.1:c.2484+49A>G	XP_011542296.1:n.2484+49A>G
XM_011543995.1:c.2451+49A>G	XP_011542297.1:n.2451+49A>G
XM_011543996.1:c.2415+49A>G	XP_011542298.1:n.2415+49A>G
XM_011543997.1:c.1947+49A>G	XP_011542299.1:n.1947+49A>G
XM_005272686.4:c.2502+49A>G	XP_005272743.1:n.2502+49A>G
XM_006724566.3:c.2397+49A>G	XP_006724629.1:n.2397+49A>G
XM_011543993.2:c.2520+49A>G	XP_011542295.1:n.2520+49A>G
XM_011543994.2:c.2484+49A>G	XP_011542296.1:n.2484+49A>G
XM_011543995.2:c.2451+49A>G	XP_011542297.1:n.2451+49A>G
XM_011543996.2:c.2415+49A>G	XP_011542298.1:n.2415+49A>G
XM_011543997.3:c.1947+49A>G	XP_011542299.1:n.1947+49A>G
XM_024452473.1:c.1842+49A>G	XP_024308241.1:n.1842+49A>G
NM_001367721.1:c.2520+49A>G MANE Select	NP_001354650.1:n.2520+49A>G