Canonical Allele Identifier: CA192653311

Gene: DNAI1

Linked Data

• dbSNP Id: rs116493724
• gnomAD v2: 9-34517094-T-C
• gnomAD v3: 9-34517096-T-C
• gnomAD v4: 9-34517096-T-C
• MyVariant Identifiers: chr9:g.34517094T>C (hg19) ; chr9:g.34517096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517096T>C , CM000671.2:g.34517096T>C	GRCh38
NC_000009.11:g.34517094T>C , CM000671.1:g.34517094T>C	GRCh37
NC_000009.10:g.34507094T>C	NCBI36
NG_008127.1:g.63284T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-189T>C MANE Select	ENSP00000242317.4:n.1819-189T>C
ENST00000242317.8:c.1819-189T>C	ENSP00000242317.4:n.1819-189T>C
ENST00000442556.1:c.329+2357T>C
ENST00000470169.5:c.607-189T>C
ENST00000485580.1:n.395-189T>C
ENST00000614641.4:c.1831-189T>C	ENSP00000480538.1:n.1831-189T>C
NM_001281428.1:c.1831-189T>C	NP_001268357.1:n.1831-189T>C
NM_012144.3:c.1819-189T>C	NP_036276.1:n.1819-189T>C
XM_006716758.2:c.1288-189T>C	XP_006716821.1:n.1288-189T>C
XM_011517847.1:c.1831-99T>C	XP_011516149.1:n.1831-99T>C
XM_011517848.1:c.1573-189T>C	XP_011516150.1:n.1573-189T>C
XR_929233.1:n.1975-99T>C
XM_006716758.3:c.1288-189T>C	XP_006716821.1:n.1288-189T>C
XM_011517847.3:c.1831-99T>C	XP_011516149.1:n.1831-99T>C
XM_011517848.2:c.1573-189T>C	XP_011516150.1:n.1573-189T>C
XM_017014625.2:c.1561-189T>C	XP_016870114.1:n.1561-189T>C
XR_002956774.1:n.1922-189T>C
XR_929233.2:n.1922-99T>C
NM_012144.4:c.1819-189T>C MANE Select	NP_036276.1:n.1819-189T>C
NM_001281428.2:c.1831-189T>C	NP_001268357.1:n.1831-189T>C