Canonical Allele Identifier: CA182963

Gene: DNAL1

Linked Data

• ClinVar Variation Id: 178765
• ClinVar RCV Id: RCV000155525 ; RCV000723999 ; RCV001088090
• dbSNP Id: rs141873943
• ExAC: 14:74156101 C / G
• gnomAD v2: 14-74156101-C-G
• gnomAD v3: 14-73689398-C-G
• gnomAD v4: 14-73689398-C-G
• MyVariant Identifiers: chr14:g.74156101C>G (hg19) ; chr14:g.73689398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73689398C>G , CM000676.2:g.73689398C>G	GRCh38
NC_000014.8:g.74156101C>G , CM000676.1:g.74156101C>G	GRCh37
NC_000014.7:g.73225854C>G	NCBI36
NG_028083.1:g.49524C>G
NG_028083.2:g.49524C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553645.7:c.415C>G MANE Select	ENSP00000452037.1:p.Leu139Val
ENST00000311089.7:c.76C>G	ENSP00000310360.3:p.Leu26Val
ENST00000553645.6:c.415C>G	ENSP00000452037.1:p.Leu139Val
ENST00000554113.5:c.76C>G	ENSP00000452368.1:p.Leu26Val
ENST00000554159.1:c.278+2013C>G	ENSP00000451264.1:n.278+2013C>G
ENST00000554339.5:c.154C>G	ENSP00000450744.1:p.Leu52Val
ENST00000554871.5:c.298C>G	ENSP00000451834.1:p.Leu100Val
ENST00000555631.6:c.298C>G	ENSP00000451547.2:p.Leu100Val
ENST00000559993.1:c.76C>G	ENSP00000453439.1:p.Leu26Val
NM_001201366.1:c.298C>G	NP_001188295.1:p.Leu100Val
NM_031427.3:c.415C>G	NP_113615.2:p.Leu139Val
XM_011537204.1:c.298C>G	XP_011535506.1:p.Leu100Val
XM_017021679.2:c.298C>G	XP_016877168.1:p.Leu100Val
XM_024449715.1:c.298C>G	XP_024305483.1:p.Leu100Val
NM_031427.4:c.415C>G MANE Select	NP_113615.2:p.Leu139Val
NM_001201366.2:c.298C>G	NP_001188295.1:p.Leu100Val