Canonical Allele Identifier: CA373266558

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517333G>T (hg19) ; chr9:g.34517335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517335G>T , CM000671.2:g.34517335G>T	GRCh38
NC_000009.11:g.34517333G>T , CM000671.1:g.34517333G>T	GRCh37
NC_000009.10:g.34507333G>T	NCBI36
NG_008127.1:g.63523G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1869G>T MANE Select	ENSP00000242317.4:p.Gln623His
ENST00000242317.8:c.1869G>T	ENSP00000242317.4:p.Gln623His
ENST00000442556.1:c.329+2596G>T
ENST00000470169.5:c.657G>T
ENST00000485580.1:n.445G>T
ENST00000614641.4:c.1881G>T	ENSP00000480538.1:p.Gln627His
NM_001281428.1:c.1881G>T	NP_001268357.1:p.Gln627His
NM_012144.3:c.1869G>T	NP_036276.1:p.Gln623His
XM_006716758.2:c.1338G>T	XP_006716821.1:p.Gln446His
XM_011517848.1:c.1623G>T	XP_011516150.1:p.Gln541His
XM_006716758.3:c.1338G>T	XP_006716821.1:p.Gln446His
XM_011517848.2:c.1623G>T	XP_011516150.1:p.Gln541His
XM_017014625.2:c.1611G>T	XP_016870114.1:p.Gln537His
XR_002956774.1:n.1972G>T
NM_012144.4:c.1869G>T MANE Select	NP_036276.1:p.Gln623His
NM_001281428.2:c.1881G>T	NP_001268357.1:p.Gln627His