Canonical Allele Identifier: CA192651910

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514740G>T , CM000671.2:g.34514740G>T	GRCh38
NC_000009.11:g.34514738G>T , CM000671.1:g.34514738G>T	GRCh37
NC_000009.10:g.34504738G>T	NCBI36
NG_008127.1:g.60928G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1818+1G>T MANE Select	NP_036276.1:n.1818+1G>T
ENST00000242317.9:c.1818+1G>T MANE Select	ENSP00000242317.4:n.1818+1G>T
NM_001281428.1:c.1830+1G>T	NP_001268357.1:n.1830+1G>T
NM_001281428.2:c.1830+1G>T	NP_001268357.1:n.1830+1G>T
NM_012144.3:c.1818+1G>T	NP_036276.1:n.1818+1G>T
ENST00000242317.8:c.1818+1G>T	ENSP00000242317.4:n.1818+1G>T
ENST00000442556.1:c.329+1G>T
ENST00000470169.5:c.606+1G>T
ENST00000485580.1:n.394+1G>T
ENST00000614641.4:c.1830+1G>T	ENSP00000480538.1:n.1830+1G>T
XM_006716758.2:c.1287+1G>T	XP_006716821.1:n.1287+1G>T
XM_006716758.3:c.1287+1G>T	XP_006716821.1:n.1287+1G>T
XM_011517846.1:c.1830+1G>T	XP_011516148.1:n.1830+1G>T
XM_011517846.2:c.1830+1G>T	XP_011516148.1:n.1830+1G>T
XM_011517847.1:c.1830+1G>T	XP_011516149.1:n.1830+1G>T
XM_011517847.3:c.1830+1G>T	XP_011516149.1:n.1830+1G>T
XM_011517848.1:c.1572+1G>T	XP_011516150.1:n.1572+1G>T
XM_011517848.2:c.1572+1G>T	XP_011516150.1:n.1572+1G>T
XM_011517849.1:c.*80G>T	XP_011516151.1:n.*80G>T
XM_011517849.2:c.*80G>T	XP_011516151.1:n.*80G>T
XM_017014625.2:c.1560+1G>T	XP_016870114.1:n.1560+1G>T
XR_002956774.1:n.1921+1G>T
XR_929232.1:n.1974+1G>T
XR_929232.2:n.1921+1G>T
XR_929233.1:n.1974+1G>T
XR_929233.2:n.1921+1G>T
XR_929235.1:n.1716+1G>T