Canonical Allele Identifier: CA5034340

Gene: DNAI1

Linked Data

• dbSNP Id: rs756877115
• ExAC: 9:34506852 C / A
• gnomAD v2: 9-34506852-C-A
• gnomAD v4: 9-34506854-C-A
• MyVariant Identifiers: chr9:g.34506852C>A (hg19) ; chr9:g.34506854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506854C>A , CM000671.2:g.34506854C>A	GRCh38
NC_000009.11:g.34506852C>A , CM000671.1:g.34506852C>A	GRCh37
NC_000009.10:g.34496852C>A	NCBI36
NG_008127.1:g.53042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1291C>A MANE Select	ENSP00000242317.4:p.His431Asn
ENST00000242317.8:c.1291C>A	ENSP00000242317.4:p.His431Asn
ENST00000470169.5:c.228C>A
ENST00000614641.4:c.1303C>A	ENSP00000480538.1:p.His435Asn
NM_001281428.1:c.1303C>A	NP_001268357.1:p.His435Asn
NM_012144.3:c.1291C>A	NP_036276.1:p.His431Asn
XM_006716758.2:c.760C>A	XP_006716821.1:p.His254Asn
XM_011517846.1:c.1303C>A	XP_011516148.1:p.His435Asn
XM_011517847.1:c.1303C>A	XP_011516149.1:p.His435Asn
XM_011517848.1:c.1303C>A	XP_011516150.1:p.His435Asn
XM_011517849.1:c.1303C>A	XP_011516151.1:p.His435Asn
XM_011517850.1:c.1303C>A	XP_011516152.1:p.His435Asn
XR_929232.1:n.1557C>A
XR_929233.1:n.1557C>A
XR_929235.1:n.1557C>A
XM_006716758.3:c.760C>A	XP_006716821.1:p.His254Asn
XM_011517846.2:c.1303C>A	XP_011516148.1:p.His435Asn
XM_011517847.3:c.1303C>A	XP_011516149.1:p.His435Asn
XM_011517848.2:c.1303C>A	XP_011516150.1:p.His435Asn
XM_011517849.2:c.1303C>A	XP_011516151.1:p.His435Asn
XM_011517850.3:c.1303C>A	XP_011516152.1:p.His435Asn
XM_017014625.2:c.1291C>A	XP_016870114.1:p.His431Asn
XR_002956774.1:n.1504C>A
XR_929232.2:n.1504C>A
XR_929233.2:n.1504C>A
NM_012144.4:c.1291C>A MANE Select	NP_036276.1:p.His431Asn
NM_001281428.2:c.1303C>A	NP_001268357.1:p.His435Asn