Canonical Allele Identifier: CA349472

Gene: DNAL1

Linked Data

• ClinVar Variation Id: 220484
• ClinVar RCV Id: RCV000205311 ; RCV002517379
• dbSNP Id: rs774964160
• ExAC: 14:74125588 G / C
• gnomAD v2: 14-74125588-G-C
• gnomAD v3: 14-73658885-G-C
• gnomAD v4: 14-73658885-G-C
• MyVariant Identifiers: chr14:g.74125588G>C (hg19) ; chr14:g.73658885G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73658885G>C , CM000676.2:g.73658885G>C	GRCh38
NC_000014.8:g.74125588G>C , CM000676.1:g.74125588G>C	GRCh37
NC_000014.7:g.73195341G>C	NCBI36
NG_028083.1:g.19011G>C
NG_028083.2:g.19011G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553645.7:c.81G>C MANE Select	ENSP00000452037.1:p.Glu27Asp
ENST00000311089.7:c.-187-3102G>C	ENSP00000310360.3:n.-187-3102G>C
ENST00000553645.6:c.81G>C	ENSP00000452037.1:p.Glu27Asp
ENST00000554113.5:c.-187-3102G>C	ENSP00000452368.1:n.-187-3102G>C
ENST00000554159.1:c.24G>C	ENSP00000451264.1:p.Glu8Asp
ENST00000554339.5:c.3+13843G>C	ENSP00000450744.1:n.3+13843G>C
ENST00000554871.5:c.-37G>C	ENSP00000451834.1:n.-37G>C
ENST00000555631.6:c.-37G>C	ENSP00000451547.2:n.-37G>C
ENST00000555919.7:c.-37G>C	ENSP00000451101.2:n.-37G>C
ENST00000559993.1:c.-406G>C	ENSP00000453439.1:n.-406G>C
NM_001201366.1:c.-37G>C	NP_001188295.1:n.-37G>C
NM_031427.3:c.81G>C	NP_113615.2:p.Glu27Asp
XM_011537204.1:c.-37G>C	XP_011535506.1:n.-37G>C
XM_017021679.2:c.-37G>C	XP_016877168.1:n.-37G>C
XM_024449715.1:c.-37G>C	XP_024305483.1:n.-37G>C
NM_031427.4:c.81G>C MANE Select	NP_113615.2:p.Glu27Asp
NM_001201366.2:c.-37G>C	NP_001188295.1:n.-37G>C