Canonical Allele Identifier: CA5034568

Gene: DNAI1

Linked Data

• dbSNP Id: rs775469694
• ExAC: 9:34517339 G / A
• gnomAD v2: 9-34517339-G-A
• gnomAD v4: 9-34517341-G-A
• MyVariant Identifiers: chr9:g.34517339G>A (hg19) ; chr9:g.34517341G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517341G>A , CM000671.2:g.34517341G>A	GRCh38
NC_000009.11:g.34517339G>A , CM000671.1:g.34517339G>A	GRCh37
NC_000009.10:g.34507339G>A	NCBI36
NG_008127.1:g.63529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1875G>A MANE Select	ENSP00000242317.4:p.Val625=
ENST00000242317.8:c.1875G>A	ENSP00000242317.4:p.Val625=
ENST00000442556.1:c.329+2602G>A
ENST00000470169.5:c.663G>A
ENST00000485580.1:n.451G>A
ENST00000614641.4:c.1887G>A	ENSP00000480538.1:p.Val629=
NM_001281428.1:c.1887G>A	NP_001268357.1:p.Val629=
NM_012144.3:c.1875G>A	NP_036276.1:p.Val625=
XM_006716758.2:c.1344G>A	XP_006716821.1:p.Val448=
XM_011517848.1:c.1629G>A	XP_011516150.1:p.Val543=
XM_006716758.3:c.1344G>A	XP_006716821.1:p.Val448=
XM_011517848.2:c.1629G>A	XP_011516150.1:p.Val543=
XM_017014625.2:c.1617G>A	XP_016870114.1:p.Val539=
XR_002956774.1:n.1978G>A
NM_012144.4:c.1875G>A MANE Select	NP_036276.1:p.Val625=
NM_001281428.2:c.1887G>A	NP_001268357.1:p.Val629=