Canonical Allele Identifier: CA7261409

Gene: DNAL1

Linked Data

• ClinVar Variation Id: 261960
• ClinVar RCV Id: RCV000250498 ; RCV000557911
• dbSNP Id: rs748496499
• ExAC: 14:74125546 A / G
• gnomAD v2: 14-74125546-A-G
• gnomAD v4: 14-73658843-A-G
• MyVariant Identifiers: chr14:g.74125546A>G (hg19) ; chr14:g.73658843A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73658843A>G , CM000676.2:g.73658843A>G	GRCh38
NC_000014.8:g.74125546A>G , CM000676.1:g.74125546A>G	GRCh37
NC_000014.7:g.73195299A>G	NCBI36
NG_028083.1:g.18969A>G
NG_028083.2:g.18969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553645.7:c.43-4A>G MANE Select	ENSP00000452037.1:n.43-4A>G
ENST00000311089.7:c.-187-3144A>G	ENSP00000310360.3:n.-187-3144A>G
ENST00000553645.6:c.43-4A>G	ENSP00000452037.1:n.43-4A>G
ENST00000554113.5:c.-187-3144A>G	ENSP00000452368.1:n.-187-3144A>G
ENST00000554339.5:c.3+13801A>G	ENSP00000450744.1:n.3+13801A>G
ENST00000554871.5:c.-75-4A>G	ENSP00000451834.1:n.-75-4A>G
ENST00000555631.6:c.-75-4A>G	ENSP00000451547.2:n.-75-4A>G
ENST00000555919.7:c.-75-4A>G	ENSP00000451101.2:n.-75-4A>G
NM_001201366.1:c.-75-4A>G	NP_001188295.1:n.-75-4A>G
NM_031427.3:c.43-4A>G	NP_113615.2:n.43-4A>G
XM_011537204.1:c.-75-4A>G	XP_011535506.1:n.-75-4A>G
XM_017021679.2:c.-75-4A>G	XP_016877168.1:n.-75-4A>G
XM_024449715.1:c.-75-4A>G	XP_024305483.1:n.-75-4A>G
NM_031427.4:c.43-4A>G MANE Select	NP_113615.2:n.43-4A>G
NM_001201366.2:c.-75-4A>G	NP_001188295.1:n.-75-4A>G