Canonical Allele Identifier: CA863463066

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1943902
• ClinVar RCV Id: RCV002663040
• dbSNP Id: rs1437773528
• MyVariant Identifiers: chr9:g.34517472G>C (hg19) ; chr9:g.34517474G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517474G>C , CM000671.2:g.34517474G>C	GRCh38
NC_000009.11:g.34517472G>C , CM000671.1:g.34517472G>C	GRCh37
NC_000009.10:g.34507472G>C	NCBI36
NG_008127.1:g.63662G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.2001+7G>C MANE Select	ENSP00000242317.4:n.2001+7G>C
ENST00000242317.8:c.2001+7G>C	ENSP00000242317.4:n.2001+7G>C
ENST00000442556.1:c.329+2735G>C
ENST00000614641.4:c.2013+7G>C	ENSP00000480538.1:n.2013+7G>C
NM_001281428.1:c.2013+7G>C	NP_001268357.1:n.2013+7G>C
NM_012144.3:c.2001+7G>C	NP_036276.1:n.2001+7G>C
XM_006716758.2:c.1470+7G>C	XP_006716821.1:n.1470+7G>C
XM_011517848.1:c.1755+7G>C	XP_011516150.1:n.1755+7G>C
XM_006716758.3:c.1470+7G>C	XP_006716821.1:n.1470+7G>C
XM_011517848.2:c.1755+7G>C	XP_011516150.1:n.1755+7G>C
XM_017014625.2:c.1743+7G>C	XP_016870114.1:n.1743+7G>C
XR_002956774.1:n.2104+7G>C
NM_012144.4:c.2001+7G>C MANE Select	NP_036276.1:n.2001+7G>C
NM_001281428.2:c.2013+7G>C	NP_001268357.1:n.2013+7G>C