Canonical Allele Identifier: CA373266462

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517316G>A (hg19) ; chr9:g.34517318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517318G>A , CM000671.2:g.34517318G>A	GRCh38
NC_000009.11:g.34517316G>A , CM000671.1:g.34517316G>A	GRCh37
NC_000009.10:g.34507316G>A	NCBI36
NG_008127.1:g.63506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1852G>A MANE Select	ENSP00000242317.4:p.Glu618Lys
ENST00000242317.8:c.1852G>A	ENSP00000242317.4:p.Glu618Lys
ENST00000442556.1:c.329+2579G>A
ENST00000470169.5:c.640G>A
ENST00000485580.1:n.428G>A
ENST00000614641.4:c.1864G>A	ENSP00000480538.1:p.Glu622Lys
NM_001281428.1:c.1864G>A	NP_001268357.1:p.Glu622Lys
NM_012144.3:c.1852G>A	NP_036276.1:p.Glu618Lys
XM_006716758.2:c.1321G>A	XP_006716821.1:p.Glu441Lys
XM_011517848.1:c.1606G>A	XP_011516150.1:p.Glu536Lys
XM_006716758.3:c.1321G>A	XP_006716821.1:p.Glu441Lys
XM_011517848.2:c.1606G>A	XP_011516150.1:p.Glu536Lys
XM_017014625.2:c.1594G>A	XP_016870114.1:p.Glu532Lys
XR_002956774.1:n.1955G>A
NM_012144.4:c.1852G>A MANE Select	NP_036276.1:p.Glu618Lys
NM_001281428.2:c.1864G>A	NP_001268357.1:p.Glu622Lys