Canonical Allele Identifier: CA192650616

Gene: DNAI1

Linked Data

• dbSNP Id: rs1000600239
• gnomAD v2: 9-34513028-G-A
• gnomAD v3: 9-34513030-G-A
• gnomAD v4: 9-34513030-G-A
• MyVariant Identifiers: chr9:g.34513028G>A (hg19) ; chr9:g.34513030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34513030G>A , CM000671.2:g.34513030G>A	GRCh38
NC_000009.11:g.34513028G>A , CM000671.1:g.34513028G>A	GRCh37
NC_000009.10:g.34503028G>A	NCBI36
NG_008127.1:g.59218G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.1490-82G>A MANE Select	ENSP00000242317.4:n.1490-82G>A
ENST00000242317.8:c.1490-82G>A	ENSP00000242317.4:n.1490-82G>A
ENST00000470169.5:c.427-82G>A
ENST00000614641.4:c.1502-82G>A	ENSP00000480538.1:n.1502-82G>A
NM_001281428.1:c.1502-82G>A	NP_001268357.1:n.1502-82G>A
NM_012144.3:c.1490-82G>A	NP_036276.1:n.1490-82G>A
XM_006716758.2:c.959-82G>A	XP_006716821.1:n.959-82G>A
XM_011517846.1:c.1502-82G>A	XP_011516148.1:n.1502-82G>A
XM_011517847.1:c.1502-82G>A	XP_011516149.1:n.1502-82G>A
XM_011517848.1:c.1324-1364G>A	XP_011516150.1:n.1324-1364G>A
XM_011517849.1:c.1502-82G>A	XP_011516151.1:n.1502-82G>A
XR_929232.1:n.1756-82G>A
XR_929233.1:n.1756-82G>A
XR_929235.1:n.1578-1474G>A
XM_006716758.3:c.959-82G>A	XP_006716821.1:n.959-82G>A
XM_011517846.2:c.1502-82G>A	XP_011516148.1:n.1502-82G>A
XM_011517847.3:c.1502-82G>A	XP_011516149.1:n.1502-82G>A
XM_011517848.2:c.1324-1364G>A	XP_011516150.1:n.1324-1364G>A
XM_011517849.2:c.1502-82G>A	XP_011516151.1:n.1502-82G>A
XM_017014625.2:c.1312-1364G>A	XP_016870114.1:n.1312-1364G>A
XR_002956774.1:n.1703-82G>A
XR_929232.2:n.1703-82G>A
XR_929233.2:n.1703-82G>A
NM_012144.4:c.1490-82G>A MANE Select	NP_036276.1:n.1490-82G>A
NM_001281428.2:c.1502-82G>A	NP_001268357.1:n.1502-82G>A