Canonical Allele Identifier: CA863462653

Gene: DNAI1

Linked Data

• dbSNP Id: rs1337966857
• gnomAD v3: 9-34517233-T-C
• gnomAD v4: 9-34517233-T-C
• MyVariant Identifiers: chr9:g.34517231T>C (hg19) ; chr9:g.34517233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517233T>C , CM000671.2:g.34517233T>C	GRCh38
NC_000009.11:g.34517231T>C , CM000671.1:g.34517231T>C	GRCh37
NC_000009.10:g.34507231T>C	NCBI36
NG_008127.1:g.63421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-52T>C MANE Select	ENSP00000242317.4:n.1819-52T>C
ENST00000242317.8:c.1819-52T>C	ENSP00000242317.4:n.1819-52T>C
ENST00000442556.1:c.329+2494T>C
ENST00000470169.5:c.607-52T>C
ENST00000485580.1:n.395-52T>C
ENST00000614641.4:c.1831-52T>C	ENSP00000480538.1:n.1831-52T>C
NM_001281428.1:c.1831-52T>C	NP_001268357.1:n.1831-52T>C
NM_012144.3:c.1819-52T>C	NP_036276.1:n.1819-52T>C
XM_006716758.2:c.1288-52T>C	XP_006716821.1:n.1288-52T>C
XM_011517847.1:c.*3T>C	XP_011516149.1:n.*3T>C
XM_011517848.1:c.1573-52T>C	XP_011516150.1:n.1573-52T>C
XR_929233.1:n.2013T>C
XM_006716758.3:c.1288-52T>C	XP_006716821.1:n.1288-52T>C
XM_011517847.3:c.*3T>C	XP_011516149.1:n.*3T>C
XM_011517848.2:c.1573-52T>C	XP_011516150.1:n.1573-52T>C
XM_017014625.2:c.1561-52T>C	XP_016870114.1:n.1561-52T>C
XR_002956774.1:n.1922-52T>C
XR_929233.2:n.1960T>C
NM_012144.4:c.1819-52T>C MANE Select	NP_036276.1:n.1819-52T>C
NM_001281428.2:c.1831-52T>C	NP_001268357.1:n.1831-52T>C