Canonical Allele Identifier: CA379888354
Gene: CSRP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1777010
ClinVar RCV Id: RCV002403529

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.19188254C>T , CM000673.2:g.19188254C>T GRCh38
NC_000011.9:g.19209801C>T , CM000673.1:g.19209801C>T GRCh37
NC_000011.8:g.19166377C>T NCBI36
NG_011932.2:g.27320G>A , LRG_440:g.27320G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265968.9:c.163G>A MANE Select ENSP00000265968.3:p.Glu55Lys
ENST00000533783.2:c.163G>A ENSP00000431813.1:p.Glu55Lys
ENST00000647990.1:c.163G>A ENSP00000496798.1:p.Glu55Lys
ENST00000648719.1:c.113-3209G>A ENSP00000497633.1:n.113-3209G>A
ENST00000649235.1:c.163G>A ENSP00000497388.1:p.Glu55Lys
ENST00000649842.1:c.113-1906G>A ENSP00000497531.1:n.113-1906G>A
ENST00000265968.7:c.163G>A ENSP00000265968.3:p.Glu55Lys
ENST00000533783.1:c.163G>A ENSP00000431813.1:p.Glu55Lys
NM_003476.4:c.163G>A NP_003467.1:p.Glu55Lys
XM_024448698.1:c.113-1906G>A XP_024304466.1:n.113-1906G>A
NM_001369404.1:c.113-1906G>A NP_001356333.1:n.113-1906G>A
NM_003476.5:c.163G>A MANE Select NP_003467.1:p.Glu55Lys