Canonical Allele Identifier: CA373264830

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514741T>A , CM000671.2:g.34514741T>A	GRCh38
NC_000009.11:g.34514739T>A , CM000671.1:g.34514739T>A	GRCh37
NC_000009.10:g.34504739T>A	NCBI36
NG_008127.1:g.60929T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1818+2T>A MANE Select	NP_036276.1:n.1818+2T>A
ENST00000242317.9:c.1818+2T>A MANE Select	ENSP00000242317.4:n.1818+2T>A
NM_001281428.1:c.1830+2T>A	NP_001268357.1:n.1830+2T>A
NM_001281428.2:c.1830+2T>A	NP_001268357.1:n.1830+2T>A
NM_012144.3:c.1818+2T>A	NP_036276.1:n.1818+2T>A
ENST00000242317.8:c.1818+2T>A	ENSP00000242317.4:n.1818+2T>A
ENST00000442556.1:c.329+2T>A
ENST00000470169.5:c.606+2T>A
ENST00000485580.1:n.394+2T>A
ENST00000614641.4:c.1830+2T>A	ENSP00000480538.1:n.1830+2T>A
XM_006716758.2:c.1287+2T>A	XP_006716821.1:n.1287+2T>A
XM_006716758.3:c.1287+2T>A	XP_006716821.1:n.1287+2T>A
XM_011517846.1:c.1830+2T>A	XP_011516148.1:n.1830+2T>A
XM_011517846.2:c.1830+2T>A	XP_011516148.1:n.1830+2T>A
XM_011517847.1:c.1830+2T>A	XP_011516149.1:n.1830+2T>A
XM_011517847.3:c.1830+2T>A	XP_011516149.1:n.1830+2T>A
XM_011517848.1:c.1572+2T>A	XP_011516150.1:n.1572+2T>A
XM_011517848.2:c.1572+2T>A	XP_011516150.1:n.1572+2T>A
XM_017014625.2:c.1560+2T>A	XP_016870114.1:n.1560+2T>A
XR_002956774.1:n.1921+2T>A
XR_929232.1:n.1974+2T>A
XR_929232.2:n.1921+2T>A
XR_929233.1:n.1974+2T>A
XR_929233.2:n.1921+2T>A
XR_929235.1:n.1716+2T>A