Canonical Allele Identifier: CA390334352

Gene: DNAL1

Linked Data

• dbSNP Id: rs2140060581
• gnomAD v4: 14-73689468-G-A
• MyVariant Identifiers: chr14:g.74156171G>A (hg19) ; chr14:g.73689468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73689468G>A , CM000676.2:g.73689468G>A	GRCh38
NC_000014.8:g.74156171G>A , CM000676.1:g.74156171G>A	GRCh37
NC_000014.7:g.73225924G>A	NCBI36
NG_028083.1:g.49594G>A
NG_028083.2:g.49594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553645.7:c.485G>A MANE Select	ENSP00000452037.1:p.Trp162Ter
ENST00000311089.7:c.146G>A	ENSP00000310360.3:p.Trp49Ter
ENST00000553645.6:c.485G>A	ENSP00000452037.1:p.Trp162Ter
ENST00000554113.5:c.146G>A	ENSP00000452368.1:p.Trp49Ter
ENST00000554159.1:c.278+2083G>A	ENSP00000451264.1:n.278+2083G>A
ENST00000554339.5:c.224G>A	ENSP00000450744.1:p.Trp75Ter
ENST00000554871.5:c.368G>A	ENSP00000451834.1:p.Trp123Ter
ENST00000555631.6:c.368G>A	ENSP00000451547.2:p.Trp123Ter
ENST00000559993.1:c.146G>A	ENSP00000453439.1:p.Trp49Ter
NM_001201366.1:c.368G>A	NP_001188295.1:p.Trp123Ter
NM_031427.3:c.485G>A	NP_113615.2:p.Trp162Ter
XM_011537204.1:c.368G>A	XP_011535506.1:p.Trp123Ter
XM_017021679.2:c.368G>A	XP_016877168.1:p.Trp123Ter
XM_024449715.1:c.368G>A	XP_024305483.1:p.Trp123Ter
NM_031427.4:c.485G>A MANE Select	NP_113615.2:p.Trp162Ter
NM_001201366.2:c.368G>A	NP_001188295.1:p.Trp123Ter