Canonical Allele Identifier: CA192653471

Gene: DNAI1

Linked Data

• dbSNP Id: rs899071158
• gnomAD v2: 9-34517255-G-C
• gnomAD v3: 9-34517257-G-C
• gnomAD v4: 9-34517257-G-C
• MyVariant Identifiers: chr9:g.34517255G>C (hg19) ; chr9:g.34517257G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517257G>C , CM000671.2:g.34517257G>C	GRCh38
NC_000009.11:g.34517255G>C , CM000671.1:g.34517255G>C	GRCh37
NC_000009.10:g.34507255G>C	NCBI36
NG_008127.1:g.63445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-28G>C MANE Select	ENSP00000242317.4:n.1819-28G>C
ENST00000242317.8:c.1819-28G>C	ENSP00000242317.4:n.1819-28G>C
ENST00000442556.1:c.329+2518G>C
ENST00000470169.5:c.607-28G>C
ENST00000485580.1:n.395-28G>C
ENST00000614641.4:c.1831-28G>C	ENSP00000480538.1:n.1831-28G>C
NM_001281428.1:c.1831-28G>C	NP_001268357.1:n.1831-28G>C
NM_012144.3:c.1819-28G>C	NP_036276.1:n.1819-28G>C
XM_006716758.2:c.1288-28G>C	XP_006716821.1:n.1288-28G>C
XM_011517847.1:c.*27G>C	XP_011516149.1:n.*27G>C
XM_011517848.1:c.1573-28G>C	XP_011516150.1:n.1573-28G>C
XR_929233.1:n.2037G>C
XM_006716758.3:c.1288-28G>C	XP_006716821.1:n.1288-28G>C
XM_011517847.3:c.*27G>C	XP_011516149.1:n.*27G>C
XM_011517848.2:c.1573-28G>C	XP_011516150.1:n.1573-28G>C
XM_017014625.2:c.1561-28G>C	XP_016870114.1:n.1561-28G>C
XR_002956774.1:n.1922-28G>C
XR_929233.2:n.1984G>C
NM_012144.4:c.1819-28G>C MANE Select	NP_036276.1:n.1819-28G>C
NM_001281428.2:c.1831-28G>C	NP_001268357.1:n.1831-28G>C