Canonical Allele Identifier: CA14008333
Community Standard Title: NM_031427.4(DNAL1):c.533-153G>C
Gene: DNAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73695749G>C , CM000676.2:g.73695749G>C GRCh38
NC_000014.8:g.74162452G>C , CM000676.1:g.74162452G>C GRCh37
NC_000014.7:g.73232205G>C NCBI36
NG_028083.1:g.55875G>C
NG_028083.2:g.55875G>C

Transcript Alleles

HGVS Amino-acid Change
NM_031427.4:c.533-153G>C MANE Select NP_113615.2:n.533-153G>C
ENST00000553645.7:c.533-153G>C MANE Select ENSP00000452037.1:n.533-153G>C
NM_001201366.1:c.416-153G>C NP_001188295.1:n.416-153G>C
NM_001201366.2:c.416-153G>C NP_001188295.1:n.416-153G>C
NM_031427.3:c.533-153G>C NP_113615.2:n.533-153G>C
ENST00000311089.7:c.194-153G>C ENSP00000310360.3:n.194-153G>C
ENST00000553645.6:c.533-153G>C ENSP00000452037.1:n.533-153G>C
ENST00000554159.1:c.279-153G>C ENSP00000451264.1:n.279-153G>C
ENST00000554339.5:c.272-153G>C ENSP00000450744.1:n.272-153G>C
ENST00000554871.5:c.416-153G>C ENSP00000451834.1:n.416-153G>C
XM_011537204.1:c.416-153G>C XP_011535506.1:n.416-153G>C
XM_017021679.2:c.416-153G>C XP_016877168.1:n.416-153G>C
XM_024449715.1:c.416-153G>C XP_024305483.1:n.416-153G>C