Canonical Allele Identifier: CA373263906

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34514527G>A (hg19) ; chr9:g.34514529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514529G>A , CM000671.2:g.34514529G>A	GRCh38
NC_000009.11:g.34514527G>A , CM000671.1:g.34514527G>A	GRCh37
NC_000009.10:g.34504527G>A	NCBI36
NG_008127.1:g.60717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1705G>A MANE Select	ENSP00000242317.4:p.Asp569Asn
ENST00000242317.8:c.1705G>A	ENSP00000242317.4:p.Asp569Asn
ENST00000442556.1:c.216G>A
ENST00000470169.5:c.507-111G>A
ENST00000485580.1:n.184G>A
ENST00000614641.4:c.1717G>A	ENSP00000480538.1:p.Asp573Asn
NM_001281428.1:c.1717G>A	NP_001268357.1:p.Asp573Asn
NM_012144.3:c.1705G>A	NP_036276.1:p.Asp569Asn
XM_006716758.2:c.1174G>A	XP_006716821.1:p.Asp392Asn
XM_011517846.1:c.1717G>A	XP_011516148.1:p.Asp573Asn
XM_011517847.1:c.1717G>A	XP_011516149.1:p.Asp573Asn
XM_011517848.1:c.1459G>A	XP_011516150.1:p.Asp487Asn
XM_011517849.1:c.1607G>A	XP_011516151.1:p.Gly536Glu
XR_929232.1:n.1861G>A
XR_929233.1:n.1861G>A
XR_929235.1:n.1603G>A
XM_006716758.3:c.1174G>A	XP_006716821.1:p.Asp392Asn
XM_011517846.2:c.1717G>A	XP_011516148.1:p.Asp573Asn
XM_011517847.3:c.1717G>A	XP_011516149.1:p.Asp573Asn
XM_011517848.2:c.1459G>A	XP_011516150.1:p.Asp487Asn
XM_011517849.2:c.1607G>A	XP_011516151.1:p.Gly536Glu
XM_017014625.2:c.1447G>A	XP_016870114.1:p.Asp483Asn
XR_002956774.1:n.1808G>A
XR_929232.2:n.1808G>A
XR_929233.2:n.1808G>A
NM_012144.4:c.1705G>A MANE Select	NP_036276.1:p.Asp569Asn
NM_001281428.2:c.1717G>A	NP_001268357.1:p.Asp573Asn