Canonical Allele Identifier: CA5034575

Gene: DNAI1

Linked Data

• dbSNP Id: rs373062538
• ExAC: 9:34517367 G / A
• gnomAD v2: 9-34517367-G-A
• gnomAD v3: 9-34517369-G-A
• gnomAD v4: 9-34517369-G-A
• MyVariant Identifiers: chr9:g.34517367G>A (hg19) ; chr9:g.34517369G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517369G>A , CM000671.2:g.34517369G>A	GRCh38
NC_000009.11:g.34517367G>A , CM000671.1:g.34517367G>A	GRCh37
NC_000009.10:g.34507367G>A	NCBI36
NG_008127.1:g.63557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1903G>A MANE Select	ENSP00000242317.4:p.Val635Met
ENST00000242317.8:c.1903G>A	ENSP00000242317.4:p.Val635Met
ENST00000442556.1:c.329+2630G>A
ENST00000470169.5:c.691G>A
ENST00000485580.1:n.479G>A
ENST00000614641.4:c.1915G>A	ENSP00000480538.1:p.Val639Met
NM_001281428.1:c.1915G>A	NP_001268357.1:p.Val639Met
NM_012144.3:c.1903G>A	NP_036276.1:p.Val635Met
XM_006716758.2:c.1372G>A	XP_006716821.1:p.Val458Met
XM_011517848.1:c.1657G>A	XP_011516150.1:p.Val553Met
XM_006716758.3:c.1372G>A	XP_006716821.1:p.Val458Met
XM_011517848.2:c.1657G>A	XP_011516150.1:p.Val553Met
XM_017014625.2:c.1645G>A	XP_016870114.1:p.Val549Met
XR_002956774.1:n.2006G>A
NM_012144.4:c.1903G>A MANE Select	NP_036276.1:p.Val635Met
NM_001281428.2:c.1915G>A	NP_001268357.1:p.Val639Met