Canonical Allele Identifier: CA2693502712

Gene: CASK

Linked Data

• gnomAD v4: X-41923035-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41923035G>C , CM000685.2:g.41923035G>C	GRCh38
NC_000023.10:g.41782288G>C , CM000685.1:g.41782288G>C	GRCh37
NC_000023.9:g.41667232G>C	NCBI36
NG_016754.1:g.5000C>G
NG_016754.2:g.5000C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.-47C>G	ENSP00000367396.2:n.-47C>G
ENST00000378158.6:c.-47C>G	ENSP00000367400.2:n.-47C>G
ENST00000378163.7:c.-47C>G MANE Select	ENSP00000367405.1:n.-47C>G
ENST00000378168.8:c.-47C>G	ENSP00000367410.4:n.-47C>G
ENST00000442742.7:c.-47C>G	ENSP00000398007.3:n.-47C>G
ENST00000643831.2:c.-47C>G	ENSP00000494388.2:n.-47C>G
ENST00000644219.1:c.-47C>G	ENSP00000495357.1:n.-47C>G
ENST00000644347.1:c.-47C>G	ENSP00000494183.1:n.-47C>G
ENST00000645986.2:c.-47C>G	ENSP00000494409.2:n.-47C>G
ENST00000675354.1:c.-47C>G	ENSP00000502315.1:n.-47C>G
ENST00000378154.1:c.-47C>G	ENSP00000367396.1:n.-47C>G
ENST00000378158.5:c.-47C>G	ENSP00000367400.1:n.-47C>G
ENST00000378163.5:c.-47C>G	ENSP00000367405.1:n.-47C>G
XM_005272686.3:c.-47C>G	XP_005272743.1:n.-47C>G
XM_006724566.2:c.-47C>G	XP_006724629.1:n.-47C>G
XM_011543993.1:c.-47C>G	XP_011542295.1:n.-47C>G
XM_011543994.1:c.-47C>G	XP_011542296.1:n.-47C>G
XM_011543995.1:c.-47C>G	XP_011542297.1:n.-47C>G
XM_011543996.1:c.-47C>G	XP_011542298.1:n.-47C>G
XM_005272686.4:c.-47C>G	XP_005272743.1:n.-47C>G
XM_006724566.3:c.-47C>G	XP_006724629.1:n.-47C>G
XM_011543993.2:c.-47C>G	XP_011542295.1:n.-47C>G
XM_011543994.2:c.-47C>G	XP_011542296.1:n.-47C>G
XM_011543995.2:c.-47C>G	XP_011542297.1:n.-47C>G
XM_011543996.2:c.-47C>G	XP_011542298.1:n.-47C>G
NM_001367721.1:c.-47C>G MANE Select	NP_001354650.1:n.-47C>G