Canonical Allele Identifier: CA5739228
Community Standard Title: NM_018180.3(DHX32):c.1288G>C (p.Val430Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125852356C>G , CM000672.2:g.125852356C>G GRCh38
NC_000010.10:g.127540925C>G , CM000672.1:g.127540925C>G GRCh37
NC_000010.9:g.127530915C>G NCBI36
NG_029095.1:g.33822C>G

Transcript Alleles

HGVS Amino-acid Change
NM_018180.3:c.1288G>C (DHX32) MANE Select NP_060650.2:p.Val430Leu
ENST00000284690.4:c.1288G>C (DHX32) MANE Select ENSP00000284690.3:p.Val430Leu
NM_016567.3:c.851-769C>G (BCCIP) NP_057651.1:n.851-769C>G
NM_016567.4:c.851-769C>G (BCCIP) NP_057651.1:n.851-769C>G
NM_018180.2:c.1288G>C (DHX32) NP_060650.2:p.Val430Leu
ENST00000284690.3:c.1288G>C (DHX32) ENSP00000284690.3:p.Val430Leu
ENST00000368721.5:c.160G>C (DHX32) ENSP00000357710.1:p.Val54Leu
ENST00000368759.5:c.851-769C>G (BCCIP) ENSP00000357748.5:n.851-769C>G