Canonical Allele Identifier: CA192651607

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 2194781
• ClinVar RCV Id: RCV002612598
• dbSNP Id: rs1013728699
• gnomAD v2: 9-34514458-G-A
• gnomAD v4: 9-34514460-G-A
• MyVariant Identifiers: chr9:g.34514458G>A (hg19) ; chr9:g.34514460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514460G>A , CM000671.2:g.34514460G>A	GRCh38
NC_000009.11:g.34514458G>A , CM000671.1:g.34514458G>A	GRCh37
NC_000009.10:g.34504458G>A	NCBI36
NG_008127.1:g.60648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1636G>A MANE Select	ENSP00000242317.4:p.Val546Met
ENST00000242317.8:c.1636G>A	ENSP00000242317.4:p.Val546Met
ENST00000442556.1:c.147G>A
ENST00000470169.5:c.507-180G>A
ENST00000485580.1:n.115G>A
ENST00000614641.4:c.1648G>A	ENSP00000480538.1:p.Val550Met
NM_001281428.1:c.1648G>A	NP_001268357.1:p.Val550Met
NM_012144.3:c.1636G>A	NP_036276.1:p.Val546Met
XM_006716758.2:c.1105G>A	XP_006716821.1:p.Val369Met
XM_011517846.1:c.1648G>A	XP_011516148.1:p.Val550Met
XM_011517847.1:c.1648G>A	XP_011516149.1:p.Val550Met
XM_011517848.1:c.1390G>A	XP_011516150.1:p.Val464Met
XM_011517849.1:c.1582-44G>A	XP_011516151.1:n.1582-44G>A
XR_929232.1:n.1836-44G>A
XR_929233.1:n.1836-44G>A
XR_929235.1:n.1578-44G>A
XM_006716758.3:c.1105G>A	XP_006716821.1:p.Val369Met
XM_011517846.2:c.1648G>A	XP_011516148.1:p.Val550Met
XM_011517847.3:c.1648G>A	XP_011516149.1:p.Val550Met
XM_011517848.2:c.1390G>A	XP_011516150.1:p.Val464Met
XM_011517849.2:c.1582-44G>A	XP_011516151.1:n.1582-44G>A
XM_017014625.2:c.1378G>A	XP_016870114.1:p.Val460Met
XR_002956774.1:n.1783-44G>A
XR_929232.2:n.1783-44G>A
XR_929233.2:n.1783-44G>A
NM_012144.4:c.1636G>A MANE Select	NP_036276.1:p.Val546Met
NM_001281428.2:c.1648G>A	NP_001268357.1:p.Val550Met