Canonical Allele Identifier: CA342751

Gene: DNAL1

Linked Data

• ClinVar Variation Id: 30816
• ClinVar RCV Id: RCV000023801 ; RCV000190934
• dbSNP Id: rs387907021
• gnomAD v3: 14-73689432-A-G
• gnomAD v4: 14-73689432-A-G
• COSMIC: COSM1477757 ; COSM1477758
• MyVariant Identifiers: chr14:g.74156135A>G (hg19) ; chr14:g.73689432A>G (hg38)
• PubMed: PMID:20301301 ; PMID:21496787

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73689432A>G , CM000676.2:g.73689432A>G	GRCh38
NC_000014.8:g.74156135A>G , CM000676.1:g.74156135A>G	GRCh37
NC_000014.7:g.73225888A>G	NCBI36
NG_028083.1:g.49558A>G
NG_028083.2:g.49558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553645.7:c.449A>G MANE Select	ENSP00000452037.1:p.Asn150Ser
ENST00000311089.7:c.110A>G	ENSP00000310360.3:p.Asn37Ser
ENST00000553645.6:c.449A>G	ENSP00000452037.1:p.Asn150Ser
ENST00000554113.5:c.110A>G	ENSP00000452368.1:p.Asn37Ser
ENST00000554159.1:c.278+2047A>G	ENSP00000451264.1:n.278+2047A>G
ENST00000554339.5:c.188A>G	ENSP00000450744.1:p.Asn63Ser
ENST00000554871.5:c.332A>G	ENSP00000451834.1:p.Asn111Ser
ENST00000555631.6:c.332A>G	ENSP00000451547.2:p.Asn111Ser
ENST00000559993.1:c.110A>G	ENSP00000453439.1:p.Asn37Ser
NM_001201366.1:c.332A>G	NP_001188295.1:p.Asn111Ser
NM_031427.3:c.449A>G	NP_113615.2:p.Asn150Ser
XM_011537204.1:c.332A>G	XP_011535506.1:p.Asn111Ser
XM_017021679.2:c.332A>G	XP_016877168.1:p.Asn111Ser
XM_024449715.1:c.332A>G	XP_024305483.1:p.Asn111Ser
NM_031427.4:c.449A>G MANE Select	NP_113615.2:p.Asn150Ser
NM_001201366.2:c.332A>G	NP_001188295.1:p.Asn111Ser