Canonical Allele Identifier: CA2244792116
Community Standard Title: NM_207103.3(SCIMP):c.21+983C=
Gene: SCIMP HGNC NCBI
ZNF594-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5233752G= , CM000679.2:g.5233752G= GRCh38
NC_000017.10:g.5137047G= , CM000679.1:g.5137047G= GRCh37
NC_000017.9:g.5077771G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_207103.3:c.21+983C= (SCIMP) MANE Select NP_996986.1:n.21+983C=
ENST00000574081.6:c.21+983C= (SCIMP) MANE Select ENSP00000461269.1:n.21+983C=
NM_001271842.1:c.21+983C= (SCIMP) NP_001258771.1:n.21+983C=
NM_001319190.1:c.21+983C= (SCIMP) NP_001306119.1:n.21+983C=
NM_001319190.2:c.21+983C= (SCIMP) NP_001306119.1:n.21+983C=
NR_034082.1:n.702-72G= (ZNF594-DT)
NR_034082.2:n.779-72G= (ZNF594-DT)
NR_152840.1:n.779-1362G= (ZNF594-DT)
ENST00000399600.8:c.21+983C= (SCIMP) ENSP00000382509.4:n.21+983C=
ENST00000571800.5:c.21+983C= (SCIMP) ENSP00000459605.1:n.21+983C=
ENST00000574081.5:c.21+983C= (SCIMP) ENSP00000461269.1:n.21+983C=
ENST00000574297.1:c.21+983C= (SCIMP) ENSP00000459153.1:n.21+983C=
XM_005256631.3:c.21+983C= (SCIMP) XP_005256688.1:n.21+983C=