Canonical Allele Identifier: CA5034475

Gene: DNAI1

Linked Data

• dbSNP Id: rs377217567
• ExAC: 9:34514414 A / G
• gnomAD v2: 9-34514414-A-G
• gnomAD v3: 9-34514416-A-G
• gnomAD v4: 9-34514416-A-G
• MyVariant Identifiers: chr9:g.34514414A>G (hg19) ; chr9:g.34514416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514416A>G , CM000671.2:g.34514416A>G	GRCh38
NC_000009.11:g.34514414A>G , CM000671.1:g.34514414A>G	GRCh37
NC_000009.10:g.34504414A>G	NCBI36
NG_008127.1:g.60604A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1592A>G MANE Select	ENSP00000242317.4:p.Gln531Arg
ENST00000242317.8:c.1592A>G	ENSP00000242317.4:p.Gln531Arg
ENST00000442556.1:c.103A>G
ENST00000470169.5:c.507-224A>G
ENST00000485580.1:n.71A>G
ENST00000614641.4:c.1604A>G	ENSP00000480538.1:p.Gln535Arg
NM_001281428.1:c.1604A>G	NP_001268357.1:p.Gln535Arg
NM_012144.3:c.1592A>G	NP_036276.1:p.Gln531Arg
XM_006716758.2:c.1061A>G	XP_006716821.1:p.Gln354Arg
XM_011517846.1:c.1604A>G	XP_011516148.1:p.Gln535Arg
XM_011517847.1:c.1604A>G	XP_011516149.1:p.Gln535Arg
XM_011517848.1:c.1346A>G	XP_011516150.1:p.Gln449Arg
XM_011517849.1:c.1582-88A>G	XP_011516151.1:n.1582-88A>G
XR_929232.1:n.1836-88A>G
XR_929233.1:n.1836-88A>G
XR_929235.1:n.1578-88A>G
XM_006716758.3:c.1061A>G	XP_006716821.1:p.Gln354Arg
XM_011517846.2:c.1604A>G	XP_011516148.1:p.Gln535Arg
XM_011517847.3:c.1604A>G	XP_011516149.1:p.Gln535Arg
XM_011517848.2:c.1346A>G	XP_011516150.1:p.Gln449Arg
XM_011517849.2:c.1582-88A>G	XP_011516151.1:n.1582-88A>G
XM_017014625.2:c.1334A>G	XP_016870114.1:p.Gln445Arg
XR_002956774.1:n.1783-88A>G
XR_929232.2:n.1783-88A>G
XR_929233.2:n.1783-88A>G
NM_012144.4:c.1592A>G MANE Select	NP_036276.1:p.Gln531Arg
NM_001281428.2:c.1604A>G	NP_001268357.1:p.Gln535Arg