Canonical Allele Identifier: CA373247934

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34459054G>T , CM000671.2:g.34459054G>T	GRCh38
NC_000009.11:g.34459052G>T , CM000671.1:g.34459052G>T	GRCh37
NC_000009.10:g.34449052G>T	NCBI36
NG_008127.1:g.5242G>T
NG_027971.1:g.4517C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.48+1G>T MANE Select	NP_036276.1:n.48+1G>T
ENST00000242317.9:c.48+1G>T MANE Select	ENSP00000242317.4:n.48+1G>T
NM_001281428.1:c.48+1G>T	NP_001268357.1:n.48+1G>T
NM_001281428.2:c.48+1G>T	NP_001268357.1:n.48+1G>T
NM_012144.3:c.48+1G>T	NP_036276.1:n.48+1G>T
ENST00000242317.8:c.48+1G>T	ENSP00000242317.4:n.48+1G>T
ENST00000437363.5:c.48+1G>T	ENSP00000395396.1:n.48+1G>T
ENST00000470982.5:n.47+1594G>T
ENST00000614641.4:c.48+1G>T	ENSP00000480538.1:n.48+1G>T
XM_011517846.1:c.48+1G>T	XP_011516148.1:n.48+1G>T
XM_011517846.2:c.48+1G>T	XP_011516148.1:n.48+1G>T
XM_011517847.1:c.48+1G>T	XP_011516149.1:n.48+1G>T
XM_011517847.3:c.48+1G>T	XP_011516149.1:n.48+1G>T
XM_011517848.1:c.48+1G>T	XP_011516150.1:n.48+1G>T
XM_011517848.2:c.48+1G>T	XP_011516150.1:n.48+1G>T
XM_011517849.1:c.48+1G>T	XP_011516151.1:n.48+1G>T
XM_011517849.2:c.48+1G>T	XP_011516151.1:n.48+1G>T
XM_011517850.1:c.48+1G>T	XP_011516152.1:n.48+1G>T
XM_011517850.3:c.48+1G>T	XP_011516152.1:n.48+1G>T
XM_017014625.2:c.48+1G>T	XP_016870114.1:n.48+1G>T
XR_002956774.1:n.249+1G>T
XR_929232.1:n.302+1G>T
XR_929232.2:n.249+1G>T
XR_929233.1:n.302+1G>T
XR_929233.2:n.249+1G>T
XR_929235.1:n.302+1G>T