Canonical Allele Identifier: CA373263138

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34514415A>T (hg19) ; chr9:g.34514417A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514417A>T , CM000671.2:g.34514417A>T	GRCh38
NC_000009.11:g.34514415A>T , CM000671.1:g.34514415A>T	GRCh37
NC_000009.10:g.34504415A>T	NCBI36
NG_008127.1:g.60605A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1593A>T MANE Select	ENSP00000242317.4:p.Gln531His
ENST00000242317.8:c.1593A>T	ENSP00000242317.4:p.Gln531His
ENST00000442556.1:c.104A>T
ENST00000470169.5:c.507-223A>T
ENST00000485580.1:n.72A>T
ENST00000614641.4:c.1605A>T	ENSP00000480538.1:p.Gln535His
NM_001281428.1:c.1605A>T	NP_001268357.1:p.Gln535His
NM_012144.3:c.1593A>T	NP_036276.1:p.Gln531His
XM_006716758.2:c.1062A>T	XP_006716821.1:p.Gln354His
XM_011517846.1:c.1605A>T	XP_011516148.1:p.Gln535His
XM_011517847.1:c.1605A>T	XP_011516149.1:p.Gln535His
XM_011517848.1:c.1347A>T	XP_011516150.1:p.Gln449His
XM_011517849.1:c.1582-87A>T	XP_011516151.1:n.1582-87A>T
XR_929232.1:n.1836-87A>T
XR_929233.1:n.1836-87A>T
XR_929235.1:n.1578-87A>T
XM_006716758.3:c.1062A>T	XP_006716821.1:p.Gln354His
XM_011517846.2:c.1605A>T	XP_011516148.1:p.Gln535His
XM_011517847.3:c.1605A>T	XP_011516149.1:p.Gln535His
XM_011517848.2:c.1347A>T	XP_011516150.1:p.Gln449His
XM_011517849.2:c.1582-87A>T	XP_011516151.1:n.1582-87A>T
XM_017014625.2:c.1335A>T	XP_016870114.1:p.Gln445His
XR_002956774.1:n.1783-87A>T
XR_929232.2:n.1783-87A>T
XR_929233.2:n.1783-87A>T
NM_012144.4:c.1593A>T MANE Select	NP_036276.1:p.Gln531His
NM_001281428.2:c.1605A>T	NP_001268357.1:p.Gln535His