Canonical Allele Identifier: CA126920
Community Standard Title: NM_005223.4(DNASE1):c.13A>T (p.Lys5Ter)
Gene: DNASE1 HGNC NCBI
TRAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3655386A>T , CM000678.2:g.3655386A>T GRCh38
NC_000016.9:g.3705387A>T , CM000678.1:g.3705387A>T GRCh37
NC_000016.8:g.3645388A>T NCBI36
NG_009285.1:g.7448A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005223.4:c.13A>T (DNASE1) MANE Select NP_005214.2:p.Lys5Ter
ENST00000246949.10:c.13A>T (DNASE1) MANE Select ENSP00000246949.5:p.Lys5Ter
NM_001351825.1:c.13A>T (DNASE1) NP_001338754.1:p.Lys5Ter
NM_001351825.2:c.13A>T (DNASE1) NP_001338754.1:p.Lys5Ter
NM_001387135.1:c.13A>T (DNASE1) NP_001374064.1:p.Lys5Ter
NM_001387139.1:c.13A>T (DNASE1) NP_001374068.1:p.Lys5Ter
NM_001387140.1:c.13A>T (DNASE1) NP_001374069.1:p.Lys5Ter
NM_001387141.1:c.-106A>T (DNASE1) NP_001374070.1:n.-106A>T
NM_005223.3:c.13A>T (DNASE1) NP_005214.2:p.Lys5Ter
NR_170561.1:n.368A>T (DNASE1)
NR_170562.1:n.368A>T (DNASE1)
ENST00000246949.9:c.13A>T (DNASE1) ENSP00000246949.5:p.Lys5Ter
ENST00000407479.5:c.13A>T (DNASE1) ENSP00000385905.1:p.Lys5Ter
ENST00000570376.5:c.13A>T (DNASE1) ENSP00000461725.1:p.Lys5Ter
ENST00000570520.1:n.233A>T (DNASE1)
ENST00000570769.5:c.13A>T (DNASE1) ENSP00000458467.1:p.Lys5Ter
ENST00000571460.5:c.13A>T (DNASE1) ENSP00000459850.1:p.Lys5Ter
ENST00000575707.5:c.255+2667T>A (TRAP1)
ENST00000576050.5:c.13A>T (DNASE1) ENSP00000461745.1:p.Lys5Ter
XM_005255148.2:c.13A>T (DNASE1) XP_005255205.1:p.Lys5Ter
XM_005255149.2:c.-106A>T (DNASE1) XP_005255206.1:n.-106A>T
XM_006720854.2:c.-106A>T (DNASE1) XP_006720917.1:n.-106A>T
XM_006720854.3:c.-106A>T (DNASE1) XP_006720917.1:n.-106A>T
XM_011522393.1:c.13A>T (DNASE1) XP_011520695.1:p.Lys5Ter
XM_011522393.2:c.13A>T (DNASE1) XP_011520695.1:p.Lys5Ter
XM_011522394.1:c.13A>T (DNASE1) XP_011520696.1:p.Lys5Ter
XM_011522395.1:c.140A>T (DNASE1) XP_011520697.1:p.Glu47Val
XM_011522396.1:c.13A>T (DNASE1) XP_011520698.1:p.Lys5Ter
XM_011522397.1:c.-226A>T (DNASE1) XP_011520699.1:n.-226A>T
XM_011522398.1:c.-137A>T (DNASE1) XP_011520700.1:n.-137A>T
XM_017022992.1:c.13A>T (DNASE1) XP_016878481.1:p.Lys5Ter
XM_017022993.1:c.13A>T (DNASE1) XP_016878482.1:p.Lys5Ter
XM_017023000.2:c.140A>T (DNASE1) XP_016878489.1:p.Glu47Val
XM_017023001.1:c.-106A>T (DNASE1) XP_016878490.1:n.-106A>T
XM_017023002.2:c.-106A>T (DNASE1) XP_016878491.1:n.-106A>T
XM_017023003.2:c.-226A>T (DNASE1) XP_016878492.1:n.-226A>T
XM_017023004.1:c.-137A>T (DNASE1) XP_016878493.1:n.-137A>T
XM_017023005.1:c.-137A>T (DNASE1) XP_016878494.1:n.-137A>T
XM_024450169.1:c.13A>T (DNASE1) XP_024305937.1:p.Lys5Ter
XM_024450170.1:c.13A>T (DNASE1) XP_024305938.1:p.Lys5Ter
XM_024450171.1:c.-106A>T (DNASE1) XP_024305939.1:n.-106A>T
XM_024450172.1:c.13A>T (DNASE1) XP_024305940.1:p.Lys5Ter
XR_002957783.1:n.1229A>T (DNASE1)
XR_002957784.1:n.1229A>T (DNASE1)
XR_002957785.1:n.1229A>T (DNASE1)
XR_243264.1:n.939A>T (DNASE1)
XR_932790.1:n.939A>T (DNASE1)
XR_933026.1:n.151+2057T>A