Canonical Allele Identifier: CA5034574

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 260202
• ClinVar RCV Id: RCV000242461 ; RCV000629611
• dbSNP Id: rs139197229
• ExAC: 9:34517366 C / T
• gnomAD v2: 9-34517366-C-T
• gnomAD v3: 9-34517368-C-T
• gnomAD v4: 9-34517368-C-T
• MyVariant Identifiers: chr9:g.34517366C>T (hg19) ; chr9:g.34517368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517368C>T , CM000671.2:g.34517368C>T	GRCh38
NC_000009.11:g.34517366C>T , CM000671.1:g.34517366C>T	GRCh37
NC_000009.10:g.34507366C>T	NCBI36
NG_008127.1:g.63556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1902C>T MANE Select	ENSP00000242317.4:p.His634=
ENST00000242317.8:c.1902C>T	ENSP00000242317.4:p.His634=
ENST00000442556.1:c.329+2629C>T
ENST00000470169.5:c.690C>T
ENST00000485580.1:n.478C>T
ENST00000614641.4:c.1914C>T	ENSP00000480538.1:p.His638=
NM_001281428.1:c.1914C>T	NP_001268357.1:p.His638=
NM_012144.3:c.1902C>T	NP_036276.1:p.His634=
XM_006716758.2:c.1371C>T	XP_006716821.1:p.His457=
XM_011517848.1:c.1656C>T	XP_011516150.1:p.His552=
XM_006716758.3:c.1371C>T	XP_006716821.1:p.His457=
XM_011517848.2:c.1656C>T	XP_011516150.1:p.His552=
XM_017014625.2:c.1644C>T	XP_016870114.1:p.His548=
XR_002956774.1:n.2005C>T
NM_012144.4:c.1902C>T MANE Select	NP_036276.1:p.His634=
NM_001281428.2:c.1914C>T	NP_001268357.1:p.His638=