Canonical Allele Identifier: CA596588881
Community Standard Title: NM_018180.3(DHX32):c.1694-20T>C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125839208A>G , CM000672.2:g.125839208A>G GRCh38
NC_000010.10:g.127527777A>G , CM000672.1:g.127527777A>G GRCh37
NC_000010.9:g.127517767A>G NCBI36
NG_029095.1:g.20674A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018180.3:c.1694-20T>C (DHX32) MANE Select NP_060650.2:n.1694-20T>C
ENST00000284690.4:c.1694-20T>C (DHX32) MANE Select ENSP00000284690.3:n.1694-20T>C
NM_016567.3:c.775-2047A>G (BCCIP) NP_057651.1:n.775-2047A>G
NM_016567.4:c.775-2047A>G (BCCIP) NP_057651.1:n.775-2047A>G
NM_018180.2:c.1694-20T>C (DHX32) NP_060650.2:n.1694-20T>C
NM_078469.2:c.775-2047A>G (BCCIP) NP_510869.1:n.775-2047A>G
NM_078469.3:c.775-2047A>G (BCCIP) NP_510869.1:n.775-2047A>G
ENST00000284690.3:c.1694-20T>C (DHX32) ENSP00000284690.3:n.1694-20T>C
ENST00000299130.7:c.775-2047A>G (BCCIP) ENSP00000299130.3:n.775-2047A>G
ENST00000368721.5:c.566-20T>C (DHX32) ENSP00000357710.1:n.566-20T>C
ENST00000368759.5:c.775-2047A>G (BCCIP) ENSP00000357748.5:n.775-2047A>G