Canonical Allele Identifier: CA373266568

Gene: DNAI1

Linked Data

• dbSNP Id: rs1825188333
• gnomAD v3: 9-34517339-G-A
• gnomAD v4: 9-34517339-G-A
• MyVariant Identifiers: chr9:g.34517337G>A (hg19) ; chr9:g.34517339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517339G>A , CM000671.2:g.34517339G>A	GRCh38
NC_000009.11:g.34517337G>A , CM000671.1:g.34517337G>A	GRCh37
NC_000009.10:g.34507337G>A	NCBI36
NG_008127.1:g.63527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1873G>A MANE Select	ENSP00000242317.4:p.Val625Met
ENST00000242317.8:c.1873G>A	ENSP00000242317.4:p.Val625Met
ENST00000442556.1:c.329+2600G>A
ENST00000470169.5:c.661G>A
ENST00000485580.1:n.449G>A
ENST00000614641.4:c.1885G>A	ENSP00000480538.1:p.Val629Met
NM_001281428.1:c.1885G>A	NP_001268357.1:p.Val629Met
NM_012144.3:c.1873G>A	NP_036276.1:p.Val625Met
XM_006716758.2:c.1342G>A	XP_006716821.1:p.Val448Met
XM_011517848.1:c.1627G>A	XP_011516150.1:p.Val543Met
XM_006716758.3:c.1342G>A	XP_006716821.1:p.Val448Met
XM_011517848.2:c.1627G>A	XP_011516150.1:p.Val543Met
XM_017014625.2:c.1615G>A	XP_016870114.1:p.Val539Met
XR_002956774.1:n.1976G>A
NM_012144.4:c.1873G>A MANE Select	NP_036276.1:p.Val625Met
NM_001281428.2:c.1885G>A	NP_001268357.1:p.Val629Met