Canonical Allele Identifier: CA373261603

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34513121G>A (hg19) ; chr9:g.34513123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34513123G>A , CM000671.2:g.34513123G>A	GRCh38
NC_000009.11:g.34513121G>A , CM000671.1:g.34513121G>A	GRCh37
NC_000009.10:g.34503121G>A	NCBI36
NG_008127.1:g.59311G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1501G>A MANE Select	ENSP00000242317.4:p.Ala501Thr
ENST00000242317.8:c.1501G>A	ENSP00000242317.4:p.Ala501Thr
ENST00000442556.1:c.12G>A
ENST00000470169.5:c.438G>A
ENST00000614641.4:c.1513G>A	ENSP00000480538.1:p.Ala505Thr
NM_001281428.1:c.1513G>A	NP_001268357.1:p.Ala505Thr
NM_012144.3:c.1501G>A	NP_036276.1:p.Ala501Thr
XM_006716758.2:c.970G>A	XP_006716821.1:p.Ala324Thr
XM_011517846.1:c.1513G>A	XP_011516148.1:p.Ala505Thr
XM_011517847.1:c.1513G>A	XP_011516149.1:p.Ala505Thr
XM_011517848.1:c.1324-1271G>A	XP_011516150.1:n.1324-1271G>A
XM_011517849.1:c.1513G>A	XP_011516151.1:p.Ala505Thr
XR_929232.1:n.1767G>A
XR_929233.1:n.1767G>A
XR_929235.1:n.1578-1381G>A
XM_006716758.3:c.970G>A	XP_006716821.1:p.Ala324Thr
XM_011517846.2:c.1513G>A	XP_011516148.1:p.Ala505Thr
XM_011517847.3:c.1513G>A	XP_011516149.1:p.Ala505Thr
XM_011517848.2:c.1324-1271G>A	XP_011516150.1:n.1324-1271G>A
XM_011517849.2:c.1513G>A	XP_011516151.1:p.Ala505Thr
XM_017014625.2:c.1312-1271G>A	XP_016870114.1:n.1312-1271G>A
XR_002956774.1:n.1714G>A
XR_929232.2:n.1714G>A
XR_929233.2:n.1714G>A
NM_012144.4:c.1501G>A MANE Select	NP_036276.1:p.Ala501Thr
NM_001281428.2:c.1513G>A	NP_001268357.1:p.Ala505Thr