Canonical Allele Identifier: CA237647780
Gene: CS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56285943C>T , CM000674.2:g.56285943C>T GRCh38
NC_000012.11:g.56679727C>T , CM000674.1:g.56679727C>T GRCh37
NC_000012.10:g.54965994C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351328.8:c.174G>A MANE Select ENSP00000342056.3:p.Thr58=
ENST00000351328.7:c.174G>A ENSP00000342056.3:p.Thr58=
ENST00000542324.6:c.135G>A ENSP00000440543.2:p.Thr45=
ENST00000546621.5:n.149G>A
ENST00000546891.5:c.66G>A ENSP00000446492.1:p.Thr22=
ENST00000546930.5:c.174G>A ENSP00000450403.1:p.Thr58=
ENST00000547283.5:n.462G>A
ENST00000547298.5:c.-25G>A ENSP00000448409.1:n.-25G>A
ENST00000548041.5:c.174G>A ENSP00000447986.1:p.Thr58=
ENST00000548567.5:c.-25G>A ENSP00000446779.1:n.-25G>A
ENST00000548849.5:c.174G>A ENSP00000449491.1:p.Thr58=
ENST00000549143.5:c.82G>A ENSP00000449571.1:p.Gly28Ser
ENST00000549221.5:c.43-2952G>A ENSP00000448667.1:n.43-2952G>A
ENST00000549318.5:c.762G>A ENSP00000446743.1:p.Thr254=
ENST00000550159.5:c.-25G>A ENSP00000447346.1:n.-25G>A
ENST00000550655.5:c.174G>A ENSP00000448172.1:p.Thr58=
ENST00000550734.5:c.-25G>A ENSP00000449025.1:n.-25G>A
ENST00000551137.5:c.-25G>A ENSP00000449753.1:n.-25G>A
ENST00000551253.5:c.-25G>A ENSP00000450101.1:n.-25G>A
ENST00000551430.6:c.-25G>A ENSP00000448166.2:n.-25G>A
ENST00000551473.5:c.-25G>A ENSP00000449427.1:n.-25G>A
ENST00000551936.5:c.-25G>A ENSP00000450312.1:n.-25G>A
ENST00000551968.5:c.174G>A ENSP00000447948.1:p.Thr58=
ENST00000552222.5:c.174G>A ENSP00000447582.1:p.Thr58=
ENST00000552688.5:c.93+652G>A ENSP00000447442.1:n.93+652G>A
NM_004077.2:c.174G>A NP_004068.2:p.Thr58=
NM_004077.3:c.174G>A MANE Select NP_004068.2:p.Thr58=