Canonical Allele Identifier: CA373266544

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517332-C-G
• MyVariant Identifiers: chr9:g.34517330C>G (hg19) ; chr9:g.34517332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517332C>G , CM000671.2:g.34517332C>G	GRCh38
NC_000009.11:g.34517330C>G , CM000671.1:g.34517330C>G	GRCh37
NC_000009.10:g.34507330C>G	NCBI36
NG_008127.1:g.63520C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1866C>G MANE Select	ENSP00000242317.4:p.Asn622Lys
ENST00000242317.8:c.1866C>G	ENSP00000242317.4:p.Asn622Lys
ENST00000442556.1:c.329+2593C>G
ENST00000470169.5:c.654C>G
ENST00000485580.1:n.442C>G
ENST00000614641.4:c.1878C>G	ENSP00000480538.1:p.Asn626Lys
NM_001281428.1:c.1878C>G	NP_001268357.1:p.Asn626Lys
NM_012144.3:c.1866C>G	NP_036276.1:p.Asn622Lys
XM_006716758.2:c.1335C>G	XP_006716821.1:p.Asn445Lys
XM_011517848.1:c.1620C>G	XP_011516150.1:p.Asn540Lys
XM_006716758.3:c.1335C>G	XP_006716821.1:p.Asn445Lys
XM_011517848.2:c.1620C>G	XP_011516150.1:p.Asn540Lys
XM_017014625.2:c.1608C>G	XP_016870114.1:p.Asn536Lys
XR_002956774.1:n.1969C>G
NM_012144.4:c.1866C>G MANE Select	NP_036276.1:p.Asn622Lys
NM_001281428.2:c.1878C>G	NP_001268357.1:p.Asn626Lys