Canonical Allele Identifier: CA5034569

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 697779
• ClinVar RCV Id: RCV000864823 ; RCV003955621
• dbSNP Id: rs565034311
• ExAC: 9:34517341 C / T
• gnomAD v2: 9-34517341-C-T
• gnomAD v3: 9-34517343-C-T
• gnomAD v4: 9-34517343-C-T
• MyVariant Identifiers: chr9:g.34517341C>T (hg19) ; chr9:g.34517343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517343C>T , CM000671.2:g.34517343C>T	GRCh38
NC_000009.11:g.34517341C>T , CM000671.1:g.34517341C>T	GRCh37
NC_000009.10:g.34507341C>T	NCBI36
NG_008127.1:g.63531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1877C>T MANE Select	ENSP00000242317.4:p.Ala626Val
ENST00000242317.8:c.1877C>T	ENSP00000242317.4:p.Ala626Val
ENST00000442556.1:c.329+2604C>T
ENST00000470169.5:c.665C>T
ENST00000485580.1:n.453C>T
ENST00000614641.4:c.1889C>T	ENSP00000480538.1:p.Ala630Val
NM_001281428.1:c.1889C>T	NP_001268357.1:p.Ala630Val
NM_012144.3:c.1877C>T	NP_036276.1:p.Ala626Val
XM_006716758.2:c.1346C>T	XP_006716821.1:p.Ala449Val
XM_011517848.1:c.1631C>T	XP_011516150.1:p.Ala544Val
XM_006716758.3:c.1346C>T	XP_006716821.1:p.Ala449Val
XM_011517848.2:c.1631C>T	XP_011516150.1:p.Ala544Val
XM_017014625.2:c.1619C>T	XP_016870114.1:p.Ala540Val
XR_002956774.1:n.1980C>T
NM_012144.4:c.1877C>T MANE Select	NP_036276.1:p.Ala626Val
NM_001281428.2:c.1889C>T	NP_001268357.1:p.Ala630Val