Canonical Allele Identifier: CA373266234

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517293T>G (hg19) ; chr9:g.34517295T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517295T>G , CM000671.2:g.34517295T>G	GRCh38
NC_000009.11:g.34517293T>G , CM000671.1:g.34517293T>G	GRCh37
NC_000009.10:g.34507293T>G	NCBI36
NG_008127.1:g.63483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1829T>G MANE Select	ENSP00000242317.4:p.Phe610Cys
ENST00000242317.8:c.1829T>G	ENSP00000242317.4:p.Phe610Cys
ENST00000442556.1:c.329+2556T>G
ENST00000470169.5:c.617T>G
ENST00000485580.1:n.405T>G
ENST00000614641.4:c.1841T>G	ENSP00000480538.1:p.Phe614Cys
NM_001281428.1:c.1841T>G	NP_001268357.1:p.Phe614Cys
NM_012144.3:c.1829T>G	NP_036276.1:p.Phe610Cys
XM_006716758.2:c.1298T>G	XP_006716821.1:p.Phe433Cys
XM_011517848.1:c.1583T>G	XP_011516150.1:p.Phe528Cys
XM_006716758.3:c.1298T>G	XP_006716821.1:p.Phe433Cys
XM_011517848.2:c.1583T>G	XP_011516150.1:p.Phe528Cys
XM_017014625.2:c.1571T>G	XP_016870114.1:p.Phe524Cys
XR_002956774.1:n.1932T>G
NM_012144.4:c.1829T>G MANE Select	NP_036276.1:p.Phe610Cys
NM_001281428.2:c.1841T>G	NP_001268357.1:p.Phe614Cys