Canonical Allele Identifier: CA14008302
Community Standard Title: NM_031427.4(DNAL1):c.208+200A>G
Gene: DNAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73662242A>G , CM000676.2:g.73662242A>G GRCh38
NC_000014.8:g.74128945A>G , CM000676.1:g.74128945A>G GRCh37
NC_000014.7:g.73198698A>G NCBI36
NG_028083.1:g.22368A>G
NG_028083.2:g.22368A>G

Transcript Alleles

HGVS Amino-acid Change
NM_031427.4:c.208+200A>G MANE Select NP_113615.2:n.208+200A>G
ENST00000553645.7:c.208+200A>G MANE Select ENSP00000452037.1:n.208+200A>G
NM_001201366.1:c.91+200A>G NP_001188295.1:n.91+200A>G
NM_001201366.2:c.91+200A>G NP_001188295.1:n.91+200A>G
NM_031427.3:c.208+200A>G NP_113615.2:n.208+200A>G
ENST00000311089.7:c.-132+200A>G ENSP00000310360.3:n.-132+200A>G
ENST00000553645.6:c.208+200A>G ENSP00000452037.1:n.208+200A>G
ENST00000554113.5:c.-132+200A>G ENSP00000452368.1:n.-132+200A>G
ENST00000554159.1:c.151+200A>G ENSP00000451264.1:n.151+200A>G
ENST00000554339.5:c.3+17200A>G ENSP00000450744.1:n.3+17200A>G
ENST00000554871.5:c.91+200A>G ENSP00000451834.1:n.91+200A>G
ENST00000555631.6:c.91+200A>G ENSP00000451547.2:n.91+200A>G
ENST00000555919.7:c.91+200A>G ENSP00000451101.2:n.91+200A>G
ENST00000559993.1:c.-279+200A>G ENSP00000453439.1:n.-279+200A>G
XM_011537204.1:c.91+200A>G XP_011535506.1:n.91+200A>G
XM_017021679.2:c.91+200A>G XP_016877168.1:n.91+200A>G
XM_024449715.1:c.91+200A>G XP_024305483.1:n.91+200A>G