Canonical Allele Identifier: CA390332160
Community Standard Title: NM_031427.4(DNAL1):c.297G>A (p.Trp99Ter)
Gene: DNAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73687291G>A , CM000676.2:g.73687291G>A GRCh38
NC_000014.8:g.74153994G>A , CM000676.1:g.74153994G>A GRCh37
NC_000014.7:g.73223747G>A NCBI36
NG_028083.1:g.47417G>A
NG_028083.2:g.47417G>A

Transcript Alleles

HGVS Amino-acid Change
NM_031427.4:c.297G>A MANE Select NP_113615.2:p.Trp99Ter
ENST00000553645.7:c.297G>A MANE Select ENSP00000452037.1:p.Trp99Ter
NM_001201366.1:c.180G>A NP_001188295.1:p.Trp60Ter
NM_001201366.2:c.180G>A NP_001188295.1:p.Trp60Ter
NM_031427.3:c.297G>A NP_113615.2:p.Trp99Ter
ENST00000311089.7:c.-43G>A ENSP00000310360.3:n.-43G>A
ENST00000553645.6:c.297G>A ENSP00000452037.1:p.Trp99Ter
ENST00000554113.5:c.-43G>A ENSP00000452368.1:n.-43G>A
ENST00000554159.1:c.184G>A ENSP00000451264.1:p.Asp62Asn
ENST00000554339.5:c.36G>A ENSP00000450744.1:p.Trp12Ter
ENST00000554871.5:c.180G>A ENSP00000451834.1:p.Trp60Ter
ENST00000555631.6:c.180G>A ENSP00000451547.2:p.Trp60Ter
ENST00000559993.1:c.-43G>A ENSP00000453439.1:n.-43G>A
XM_011537204.1:c.180G>A XP_011535506.1:p.Trp60Ter
XM_017021679.2:c.180G>A XP_016877168.1:p.Trp60Ter
XM_024449715.1:c.180G>A XP_024305483.1:p.Trp60Ter