Canonical Allele Identifier: CA254551
Gene: CSRP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8780
dbSNP Id: rs137852764

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.19188211T>C , CM000673.2:g.19188211T>C GRCh38
NC_000011.9:g.19209758T>C , CM000673.1:g.19209758T>C GRCh37
NC_000011.8:g.19166334T>C NCBI36
NG_011932.2:g.27363A>G , LRG_440:g.27363A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265968.9:c.206A>G MANE Select ENSP00000265968.3:p.Lys69Arg
ENST00000533783.2:c.206A>G ENSP00000431813.1:p.Lys69Arg
ENST00000647990.1:c.206A>G ENSP00000496798.1:p.Lys69Arg
ENST00000648719.1:c.113-3166A>G ENSP00000497633.1:n.113-3166A>G
ENST00000649235.1:c.206A>G ENSP00000497388.1:p.Lys69Arg
ENST00000649842.1:c.113-1863A>G ENSP00000497531.1:n.113-1863A>G
ENST00000265968.7:c.206A>G ENSP00000265968.3:p.Lys69Arg
ENST00000533783.1:c.206A>G ENSP00000431813.1:p.Lys69Arg
NM_003476.4:c.206A>G NP_003467.1:p.Lys69Arg
XM_024448698.1:c.113-1863A>G XP_024304466.1:n.113-1863A>G
NM_001369404.1:c.113-1863A>G NP_001356333.1:n.113-1863A>G
NM_003476.5:c.206A>G MANE Select NP_003467.1:p.Lys69Arg