Canonical Allele Identifier: CA373266549

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517331C>A (hg19) ; chr9:g.34517333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517333C>A , CM000671.2:g.34517333C>A	GRCh38
NC_000009.11:g.34517331C>A , CM000671.1:g.34517331C>A	GRCh37
NC_000009.10:g.34507331C>A	NCBI36
NG_008127.1:g.63521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1867C>A MANE Select	ENSP00000242317.4:p.Gln623Lys
ENST00000242317.8:c.1867C>A	ENSP00000242317.4:p.Gln623Lys
ENST00000442556.1:c.329+2594C>A
ENST00000470169.5:c.655C>A
ENST00000485580.1:n.443C>A
ENST00000614641.4:c.1879C>A	ENSP00000480538.1:p.Gln627Lys
NM_001281428.1:c.1879C>A	NP_001268357.1:p.Gln627Lys
NM_012144.3:c.1867C>A	NP_036276.1:p.Gln623Lys
XM_006716758.2:c.1336C>A	XP_006716821.1:p.Gln446Lys
XM_011517848.1:c.1621C>A	XP_011516150.1:p.Gln541Lys
XM_006716758.3:c.1336C>A	XP_006716821.1:p.Gln446Lys
XM_011517848.2:c.1621C>A	XP_011516150.1:p.Gln541Lys
XM_017014625.2:c.1609C>A	XP_016870114.1:p.Gln537Lys
XR_002956774.1:n.1970C>A
NM_012144.4:c.1867C>A MANE Select	NP_036276.1:p.Gln623Lys
NM_001281428.2:c.1879C>A	NP_001268357.1:p.Gln627Lys