Canonical Allele Identifier: CA7261453

Gene: DNAL1

Linked Data

• ClinVar Variation Id: 539288
• ClinVar RCV Id: RCV000648990
• dbSNP Id: rs781680294
• ExAC: 14:74138257 T / G
• gnomAD v2: 14-74138257-T-G
• gnomAD v3: 14-73671554-T-G
• gnomAD v4: 14-73671554-T-G
• MyVariant Identifiers: chr14:g.74138257T>G (hg19) ; chr14:g.73671554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73671554T>G , CM000676.2:g.73671554T>G	GRCh38
NC_000014.8:g.74138257T>G , CM000676.1:g.74138257T>G	GRCh37
NC_000014.7:g.73208010T>G	NCBI36
NG_028083.1:g.31680T>G
NG_028083.2:g.31680T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553645.7:c.221T>G MANE Select	ENSP00000452037.1:p.Ile74Arg
ENST00000311089.7:c.-119T>G	ENSP00000310360.3:n.-119T>G
ENST00000553645.6:c.221T>G	ENSP00000452037.1:p.Ile74Arg
ENST00000554113.5:c.-119T>G	ENSP00000452368.1:n.-119T>G
ENST00000554159.1:c.151+9512T>G	ENSP00000451264.1:n.151+9512T>G
ENST00000554339.5:c.4-15705T>G	ENSP00000450744.1:n.4-15705T>G
ENST00000554871.5:c.104T>G	ENSP00000451834.1:p.Ile35Arg
ENST00000555631.6:c.104T>G	ENSP00000451547.2:p.Ile35Arg
ENST00000555919.7:c.104T>G	ENSP00000451101.2:p.Ile35Arg
ENST00000559993.1:c.-266T>G	ENSP00000453439.1:n.-266T>G
NM_001201366.1:c.104T>G	NP_001188295.1:p.Ile35Arg
NM_031427.3:c.221T>G	NP_113615.2:p.Ile74Arg
XM_011537204.1:c.104T>G	XP_011535506.1:p.Ile35Arg
XM_017021679.2:c.104T>G	XP_016877168.1:p.Ile35Arg
XM_024449715.1:c.104T>G	XP_024305483.1:p.Ile35Arg
NM_031427.4:c.221T>G MANE Select	NP_113615.2:p.Ile74Arg
NM_001201366.2:c.104T>G	NP_001188295.1:p.Ile35Arg