Canonical Allele Identifier: CA373266698

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517368-C-A
• MyVariant Identifiers: chr9:g.34517366C>A (hg19) ; chr9:g.34517368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517368C>A , CM000671.2:g.34517368C>A	GRCh38
NC_000009.11:g.34517366C>A , CM000671.1:g.34517366C>A	GRCh37
NC_000009.10:g.34507366C>A	NCBI36
NG_008127.1:g.63556C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1902C>A MANE Select	ENSP00000242317.4:p.His634Gln
ENST00000242317.8:c.1902C>A	ENSP00000242317.4:p.His634Gln
ENST00000442556.1:c.329+2629C>A
ENST00000470169.5:c.690C>A
ENST00000485580.1:n.478C>A
ENST00000614641.4:c.1914C>A	ENSP00000480538.1:p.His638Gln
NM_001281428.1:c.1914C>A	NP_001268357.1:p.His638Gln
NM_012144.3:c.1902C>A	NP_036276.1:p.His634Gln
XM_006716758.2:c.1371C>A	XP_006716821.1:p.His457Gln
XM_011517848.1:c.1656C>A	XP_011516150.1:p.His552Gln
XM_006716758.3:c.1371C>A	XP_006716821.1:p.His457Gln
XM_011517848.2:c.1656C>A	XP_011516150.1:p.His552Gln
XM_017014625.2:c.1644C>A	XP_016870114.1:p.His548Gln
XR_002956774.1:n.2005C>A
NM_012144.4:c.1902C>A MANE Select	NP_036276.1:p.His634Gln
NM_001281428.2:c.1914C>A	NP_001268357.1:p.His638Gln