Canonical Allele Identifier: CA10390020

Gene: CASK

Linked Data

• dbSNP Id: rs753653837
• ExAC: X:41390311 G / T
• gnomAD v2: X-41390311-G-T
• gnomAD v4: X-41531058-G-T
• MyVariant Identifiers: chrX:g.41390311G>T (hg19) ; chrX:g.41531058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531058G>T , CM000685.2:g.41531058G>T	GRCh38
NC_000023.10:g.41390311G>T , CM000685.1:g.41390311G>T	GRCh37
NC_000023.9:g.41275255G>T	NCBI36
NG_016754.1:g.396977C>A
NG_016754.2:g.396977C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2418C>A	ENSP00000367396.2:p.Ile806=
ENST00000378158.6:c.2415C>A	ENSP00000367400.2:p.Ile805=
ENST00000378163.7:c.2469C>A MANE Select	ENSP00000367405.1:p.Ile823=
ENST00000378166.9:c.2367C>A	ENSP00000367408.5:p.Ile789=
ENST00000378168.8:c.2472C>A	ENSP00000367410.4:p.Ile824=
ENST00000378179.9:c.1089C>A	ENSP00000367421.4:p.Ile363=
ENST00000421587.8:c.2400C>A	ENSP00000400526.4:p.Ile800=
ENST00000442742.7:c.2331C>A	ENSP00000398007.3:p.Ile777=
ENST00000642499.1:n.1248C>A
ENST00000643733.1:c.241C>A
ENST00000644219.1:c.2451C>A	ENSP00000495357.1:p.Ile817=
ENST00000644347.1:c.2382C>A	ENSP00000494183.1:p.Ile794=
ENST00000645566.1:c.2454C>A	ENSP00000494788.1:p.Ile818=
ENST00000645937.2:n.2700C>A
ENST00000645986.2:c.2436C>A	ENSP00000494409.2:p.Ile812=
ENST00000646087.2:c.1791C>A	ENSP00000495510.2:p.Ile597=
ENST00000646120.2:c.2385C>A	ENSP00000495291.2:p.Ile795=
ENST00000675354.1:c.2403C>A	ENSP00000502315.1:p.Ile801=
ENST00000378158.5:c.2418C>A	ENSP00000367400.1:p.Ile806=
ENST00000378163.5:c.2469C>A	ENSP00000367405.1:p.Ile823=
ENST00000378166.8:c.2454C>A	ENSP00000367408.4:p.Ile818=
ENST00000378168.6:c.834C>A	ENSP00000367410.2:p.Ile278=
ENST00000378179.7:c.1245C>A	ENSP00000367421.3:p.Ile415=
ENST00000421587.6:c.2382C>A	ENSP00000400526.2:p.Ile794=
ENST00000442742.6:c.2385C>A	ENSP00000398007.2:p.Ile795=
NM_001126054.2:c.2385C>A	NP_001119526.1:p.Ile795=
NM_001126055.2:c.2382C>A	NP_001119527.1:p.Ile794=
NM_003688.3:c.2454C>A	NP_003679.2:p.Ile818=
XM_005272686.3:c.2451C>A	XP_005272743.1:p.Ile817=
XM_006724566.2:c.2346C>A	XP_006724629.1:p.Ile782=
XM_011543993.1:c.2469C>A	XP_011542295.1:p.Ile823=
XM_011543994.1:c.2433C>A	XP_011542296.1:p.Ile811=
XM_011543995.1:c.2400C>A	XP_011542297.1:p.Ile800=
XM_011543996.1:c.2364C>A	XP_011542298.1:p.Ile788=
XM_011543997.1:c.1896C>A	XP_011542299.1:p.Ile632=
XM_005272686.4:c.2451C>A	XP_005272743.1:p.Ile817=
XM_006724566.3:c.2346C>A	XP_006724629.1:p.Ile782=
XM_011543993.2:c.2469C>A	XP_011542295.1:p.Ile823=
XM_011543994.2:c.2433C>A	XP_011542296.1:p.Ile811=
XM_011543995.2:c.2400C>A	XP_011542297.1:p.Ile800=
XM_011543996.2:c.2364C>A	XP_011542298.1:p.Ile788=
XM_011543997.3:c.1896C>A	XP_011542299.1:p.Ile632=
XM_024452473.1:c.1791C>A	XP_024308241.1:p.Ile597=
NM_001367721.1:c.2469C>A MANE Select	NP_001354650.1:p.Ile823=