Canonical Allele Identifier: CA9668332
Community Standard Title: NC_000019.10:g.55166633C>G
Gene: DNAAF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55166633C>G , CM000681.2:g.55166633C>G GRCh38
NC_000019.9:g.55678001C>G , CM000681.1:g.55678001C>G GRCh37
NC_000019.8:g.60369813C>G NCBI36
NG_032759.1:g.5090G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001256714.1:c.16G>C NP_001243643.1:p.Asp6His
NM_001256715.1:c.-115G>C NP_001243644.1:n.-115G>C
NM_001256716.1:c.-364G>C NP_001243645.1:n.-364G>C
NM_178837.4:c.16G>C NP_849159.2:p.Asp6His
ENST00000391720.8:c.16G>C ENSP00000375600.5:p.Asp6His
ENST00000455045.5:c.-364G>C ENSP00000394343.1:n.-364G>C
ENST00000527223.6:c.16G>C ENSP00000436975.2:p.Asp6His
ENST00000528476.1:n.90G>C
ENST00000532817.5:c.-246G>C ENSP00000432838.2:n.-246G>C
ENST00000586877.1:n.8G>C