Canonical Allele Identifier: CA373266149

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 1984045
• ClinVar RCV Id: RCV002756721
• dbSNP Id: rs148762102
• gnomAD v4: 9-34517288-C-T
• MyVariant Identifiers: chr9:g.34517286C>T (hg19) ; chr9:g.34517288C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517288C>T , CM000671.2:g.34517288C>T	GRCh38
NC_000009.11:g.34517286C>T , CM000671.1:g.34517286C>T	GRCh37
NC_000009.10:g.34507286C>T	NCBI36
NG_008127.1:g.63476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1822C>T MANE Select	ENSP00000242317.4:p.His608Tyr
ENST00000242317.8:c.1822C>T	ENSP00000242317.4:p.His608Tyr
ENST00000442556.1:c.329+2549C>T
ENST00000470169.5:c.610C>T
ENST00000485580.1:n.398C>T
ENST00000614641.4:c.1834C>T	ENSP00000480538.1:p.His612Tyr
NM_001281428.1:c.1834C>T	NP_001268357.1:p.His612Tyr
NM_012144.3:c.1822C>T	NP_036276.1:p.His608Tyr
XM_006716758.2:c.1291C>T	XP_006716821.1:p.His431Tyr
XM_011517848.1:c.1576C>T	XP_011516150.1:p.His526Tyr
XM_006716758.3:c.1291C>T	XP_006716821.1:p.His431Tyr
XM_011517848.2:c.1576C>T	XP_011516150.1:p.His526Tyr
XM_017014625.2:c.1564C>T	XP_016870114.1:p.His522Tyr
XR_002956774.1:n.1925C>T
NM_012144.4:c.1822C>T MANE Select	NP_036276.1:p.His608Tyr
NM_001281428.2:c.1834C>T	NP_001268357.1:p.His612Tyr