Canonical Allele Identifier: CA2580080363

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2128090
• ClinVar RCV Id: RCV003055819

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517476T>C , CM000671.2:g.34517476T>C	GRCh38
NC_000009.11:g.34517474T>C , CM000671.1:g.34517474T>C	GRCh37
NC_000009.10:g.34507474T>C	NCBI36
NG_008127.1:g.63664T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.2001+9T>C MANE Select	ENSP00000242317.4:n.2001+9T>C
ENST00000242317.8:c.2001+9T>C	ENSP00000242317.4:n.2001+9T>C
ENST00000442556.1:c.329+2737T>C
ENST00000614641.4:c.2013+9T>C	ENSP00000480538.1:n.2013+9T>C
NM_001281428.1:c.2013+9T>C	NP_001268357.1:n.2013+9T>C
NM_012144.3:c.2001+9T>C	NP_036276.1:n.2001+9T>C
XM_006716758.2:c.1470+9T>C	XP_006716821.1:n.1470+9T>C
XM_011517848.1:c.1755+9T>C	XP_011516150.1:n.1755+9T>C
XM_006716758.3:c.1470+9T>C	XP_006716821.1:n.1470+9T>C
XM_011517848.2:c.1755+9T>C	XP_011516150.1:n.1755+9T>C
XM_017014625.2:c.1743+9T>C	XP_016870114.1:n.1743+9T>C
XR_002956774.1:n.2104+9T>C
NM_012144.4:c.2001+9T>C MANE Select	NP_036276.1:n.2001+9T>C
NM_001281428.2:c.2013+9T>C	NP_001268357.1:n.2013+9T>C