Canonical Allele Identifier: CA373266597

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517344C>A (hg19) ; chr9:g.34517346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517346C>A , CM000671.2:g.34517346C>A	GRCh38
NC_000009.11:g.34517344C>A , CM000671.1:g.34517344C>A	GRCh37
NC_000009.10:g.34507344C>A	NCBI36
NG_008127.1:g.63534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1880C>A MANE Select	ENSP00000242317.4:p.Ala627Asp
ENST00000242317.8:c.1880C>A	ENSP00000242317.4:p.Ala627Asp
ENST00000442556.1:c.329+2607C>A
ENST00000470169.5:c.668C>A
ENST00000485580.1:n.456C>A
ENST00000614641.4:c.1892C>A	ENSP00000480538.1:p.Ala631Asp
NM_001281428.1:c.1892C>A	NP_001268357.1:p.Ala631Asp
NM_012144.3:c.1880C>A	NP_036276.1:p.Ala627Asp
XM_006716758.2:c.1349C>A	XP_006716821.1:p.Ala450Asp
XM_011517848.1:c.1634C>A	XP_011516150.1:p.Ala545Asp
XM_006716758.3:c.1349C>A	XP_006716821.1:p.Ala450Asp
XM_011517848.2:c.1634C>A	XP_011516150.1:p.Ala545Asp
XM_017014625.2:c.1622C>A	XP_016870114.1:p.Ala541Asp
XR_002956774.1:n.1983C>A
NM_012144.4:c.1880C>A MANE Select	NP_036276.1:p.Ala627Asp
NM_001281428.2:c.1892C>A	NP_001268357.1:p.Ala631Asp