Canonical Allele Identifier: CA373263116

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34514412C>A (hg19) ; chr9:g.34514414C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514414C>A , CM000671.2:g.34514414C>A	GRCh38
NC_000009.11:g.34514412C>A , CM000671.1:g.34514412C>A	GRCh37
NC_000009.10:g.34504412C>A	NCBI36
NG_008127.1:g.60602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1590C>A MANE Select	ENSP00000242317.4:p.Ser530Arg
ENST00000242317.8:c.1590C>A	ENSP00000242317.4:p.Ser530Arg
ENST00000442556.1:c.101C>A
ENST00000470169.5:c.507-226C>A
ENST00000485580.1:n.69C>A
ENST00000614641.4:c.1602C>A	ENSP00000480538.1:p.Ser534Arg
NM_001281428.1:c.1602C>A	NP_001268357.1:p.Ser534Arg
NM_012144.3:c.1590C>A	NP_036276.1:p.Ser530Arg
XM_006716758.2:c.1059C>A	XP_006716821.1:p.Ser353Arg
XM_011517846.1:c.1602C>A	XP_011516148.1:p.Ser534Arg
XM_011517847.1:c.1602C>A	XP_011516149.1:p.Ser534Arg
XM_011517848.1:c.1344C>A	XP_011516150.1:p.Ser448Arg
XM_011517849.1:c.1582-90C>A	XP_011516151.1:n.1582-90C>A
XR_929232.1:n.1836-90C>A
XR_929233.1:n.1836-90C>A
XR_929235.1:n.1578-90C>A
XM_006716758.3:c.1059C>A	XP_006716821.1:p.Ser353Arg
XM_011517846.2:c.1602C>A	XP_011516148.1:p.Ser534Arg
XM_011517847.3:c.1602C>A	XP_011516149.1:p.Ser534Arg
XM_011517848.2:c.1344C>A	XP_011516150.1:p.Ser448Arg
XM_011517849.2:c.1582-90C>A	XP_011516151.1:n.1582-90C>A
XM_017014625.2:c.1332C>A	XP_016870114.1:p.Ser444Arg
XR_002956774.1:n.1783-90C>A
XR_929232.2:n.1783-90C>A
XR_929233.2:n.1783-90C>A
NM_012144.4:c.1590C>A MANE Select	NP_036276.1:p.Ser530Arg
NM_001281428.2:c.1602C>A	NP_001268357.1:p.Ser534Arg