Canonical Allele Identifier: CA373266690

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517366-C-G
• MyVariant Identifiers: chr9:g.34517364C>G (hg19) ; chr9:g.34517366C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517366C>G , CM000671.2:g.34517366C>G	GRCh38
NC_000009.11:g.34517364C>G , CM000671.1:g.34517364C>G	GRCh37
NC_000009.10:g.34507364C>G	NCBI36
NG_008127.1:g.63554C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1900C>G MANE Select	ENSP00000242317.4:p.His634Asp
ENST00000242317.8:c.1900C>G	ENSP00000242317.4:p.His634Asp
ENST00000442556.1:c.329+2627C>G
ENST00000470169.5:c.688C>G
ENST00000485580.1:n.476C>G
ENST00000614641.4:c.1912C>G	ENSP00000480538.1:p.His638Asp
NM_001281428.1:c.1912C>G	NP_001268357.1:p.His638Asp
NM_012144.3:c.1900C>G	NP_036276.1:p.His634Asp
XM_006716758.2:c.1369C>G	XP_006716821.1:p.His457Asp
XM_011517848.1:c.1654C>G	XP_011516150.1:p.His552Asp
XM_006716758.3:c.1369C>G	XP_006716821.1:p.His457Asp
XM_011517848.2:c.1654C>G	XP_011516150.1:p.His552Asp
XM_017014625.2:c.1642C>G	XP_016870114.1:p.His548Asp
XR_002956774.1:n.2003C>G
NM_012144.4:c.1900C>G MANE Select	NP_036276.1:p.His634Asp
NM_001281428.2:c.1912C>G	NP_001268357.1:p.His638Asp