Canonical Allele Identifier: CA373266525

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517326G>T (hg19) ; chr9:g.34517328G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517328G>T , CM000671.2:g.34517328G>T	GRCh38
NC_000009.11:g.34517326G>T , CM000671.1:g.34517326G>T	GRCh37
NC_000009.10:g.34507326G>T	NCBI36
NG_008127.1:g.63516G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1862G>T MANE Select	ENSP00000242317.4:p.Cys621Phe
ENST00000242317.8:c.1862G>T	ENSP00000242317.4:p.Cys621Phe
ENST00000442556.1:c.329+2589G>T
ENST00000470169.5:c.650G>T
ENST00000485580.1:n.438G>T
ENST00000614641.4:c.1874G>T	ENSP00000480538.1:p.Cys625Phe
NM_001281428.1:c.1874G>T	NP_001268357.1:p.Cys625Phe
NM_012144.3:c.1862G>T	NP_036276.1:p.Cys621Phe
XM_006716758.2:c.1331G>T	XP_006716821.1:p.Cys444Phe
XM_011517848.1:c.1616G>T	XP_011516150.1:p.Cys539Phe
XM_006716758.3:c.1331G>T	XP_006716821.1:p.Cys444Phe
XM_011517848.2:c.1616G>T	XP_011516150.1:p.Cys539Phe
XM_017014625.2:c.1604G>T	XP_016870114.1:p.Cys535Phe
XR_002956774.1:n.1965G>T
NM_012144.4:c.1862G>T MANE Select	NP_036276.1:p.Cys621Phe
NM_001281428.2:c.1874G>T	NP_001268357.1:p.Cys625Phe