Canonical Allele Identifier: CA390326127
Gene: DNAL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73671557T>G , CM000676.2:g.73671557T>G GRCh38
NC_000014.8:g.74138260T>G , CM000676.1:g.74138260T>G GRCh37
NC_000014.7:g.73208013T>G NCBI36
NG_028083.1:g.31683T>G
NG_028083.2:g.31683T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553645.7:c.224T>G MANE Select ENSP00000452037.1:p.Leu75Ter
ENST00000311089.7:c.-116T>G ENSP00000310360.3:n.-116T>G
ENST00000553645.6:c.224T>G ENSP00000452037.1:p.Leu75Ter
ENST00000554113.5:c.-116T>G ENSP00000452368.1:n.-116T>G
ENST00000554159.1:c.151+9515T>G ENSP00000451264.1:n.151+9515T>G
ENST00000554339.5:c.4-15702T>G ENSP00000450744.1:n.4-15702T>G
ENST00000554871.5:c.107T>G ENSP00000451834.1:p.Leu36Ter
ENST00000555631.6:c.107T>G ENSP00000451547.2:p.Leu36Ter
ENST00000555919.7:c.107T>G ENSP00000451101.2:p.Leu36Ter
ENST00000559993.1:c.-263T>G ENSP00000453439.1:n.-263T>G
NM_001201366.1:c.107T>G NP_001188295.1:p.Leu36Ter
NM_031427.3:c.224T>G NP_113615.2:p.Leu75Ter
XM_011537204.1:c.107T>G XP_011535506.1:p.Leu36Ter
XM_017021679.2:c.107T>G XP_016877168.1:p.Leu36Ter
XM_024449715.1:c.107T>G XP_024305483.1:p.Leu36Ter
NM_031427.4:c.224T>G MANE Select NP_113615.2:p.Leu75Ter
NM_001201366.2:c.107T>G NP_001188295.1:p.Leu36Ter