Canonical Allele Identifier: CA1123116676

Gene: DNAI1

Linked Data

• dbSNP Id: rs1825185320
• gnomAD v3: 9-34517222-T-C
• gnomAD v4: 9-34517222-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517222T>C , CM000671.2:g.34517222T>C	GRCh38
NC_000009.11:g.34517220T>C , CM000671.1:g.34517220T>C	GRCh37
NC_000009.10:g.34507220T>C	NCBI36
NG_008127.1:g.63410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-63T>C MANE Select	ENSP00000242317.4:n.1819-63T>C
ENST00000242317.8:c.1819-63T>C	ENSP00000242317.4:n.1819-63T>C
ENST00000442556.1:c.329+2483T>C
ENST00000470169.5:c.607-63T>C
ENST00000485580.1:n.395-63T>C
ENST00000614641.4:c.1831-63T>C	ENSP00000480538.1:n.1831-63T>C
NM_001281428.1:c.1831-63T>C	NP_001268357.1:n.1831-63T>C
NM_012144.3:c.1819-63T>C	NP_036276.1:n.1819-63T>C
XM_006716758.2:c.1288-63T>C	XP_006716821.1:n.1288-63T>C
XM_011517847.1:c.1858T>C	XP_011516149.1:p.Phe620Leu
XM_011517848.1:c.1573-63T>C	XP_011516150.1:n.1573-63T>C
XR_929233.1:n.2002T>C
XM_006716758.3:c.1288-63T>C	XP_006716821.1:n.1288-63T>C
XM_011517847.3:c.1858T>C	XP_011516149.1:p.Phe620Leu
XM_011517848.2:c.1573-63T>C	XP_011516150.1:n.1573-63T>C
XM_017014625.2:c.1561-63T>C	XP_016870114.1:n.1561-63T>C
XR_002956774.1:n.1922-63T>C
XR_929233.2:n.1949T>C
NM_012144.4:c.1819-63T>C MANE Select	NP_036276.1:n.1819-63T>C
NM_001281428.2:c.1831-63T>C	NP_001268357.1:n.1831-63T>C