Canonical Allele Identifier: CA241808

Gene: DNAL1

Linked Data

• ClinVar Variation Id: 195386
• ClinVar RCV Id: RCV000175955 ; RCV002054074
• dbSNP Id: rs185924269
• ExAC: 14:74121535 T / C
• gnomAD v2: 14-74121535-T-C
• gnomAD v3: 14-73654832-T-C
• gnomAD v4: 14-73654832-T-C
• MyVariant Identifiers: chr14:g.74121535T>C (hg19) ; chr14:g.73654832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73654832T>C , CM000676.2:g.73654832T>C	GRCh38
NC_000014.8:g.74121535T>C , CM000676.1:g.74121535T>C	GRCh37
NC_000014.7:g.73191288T>C	NCBI36
NG_028083.1:g.14958T>C
NG_028083.2:g.14958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553645.7:c.4-15T>C MANE Select	ENSP00000452037.1:n.4-15T>C
ENST00000311089.7:c.-226-15T>C	ENSP00000310360.3:n.-226-15T>C
ENST00000553645.6:c.4-15T>C	ENSP00000452037.1:n.4-15T>C
ENST00000554113.5:c.-187-7155T>C	ENSP00000452368.1:n.-187-7155T>C
ENST00000554339.5:c.3+9790T>C	ENSP00000450744.1:n.3+9790T>C
ENST00000554871.5:c.-114-15T>C	ENSP00000451834.1:n.-114-15T>C
ENST00000555631.6:c.-114-15T>C	ENSP00000451547.2:n.-114-15T>C
ENST00000555919.7:c.-114-15T>C	ENSP00000451101.2:n.-114-15T>C
NM_001201366.1:c.-114-15T>C	NP_001188295.1:n.-114-15T>C
NM_031427.3:c.4-15T>C	NP_113615.2:n.4-15T>C
XM_011537204.1:c.-114-15T>C	XP_011535506.1:n.-114-15T>C
XM_017021679.2:c.-114-15T>C	XP_016877168.1:n.-114-15T>C
XM_024449715.1:c.-114-15T>C	XP_024305483.1:n.-114-15T>C
NM_031427.4:c.4-15T>C MANE Select	NP_113615.2:n.4-15T>C
NM_001201366.2:c.-114-15T>C	NP_001188295.1:n.-114-15T>C