Canonical Allele Identifier: CA373242263

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34485242T>G , CM000671.2:g.34485242T>G	GRCh38
NC_000009.11:g.34485240T>G , CM000671.1:g.34485240T>G	GRCh37
NC_000009.10:g.34475240T>G	NCBI36
NG_008127.1:g.31430T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.180+2T>G MANE Select	NP_036276.1:n.180+2T>G
ENST00000242317.9:c.180+2T>G MANE Select	ENSP00000242317.4:n.180+2T>G
NM_001281428.1:c.180+2T>G	NP_001268357.1:n.180+2T>G
NM_001281428.2:c.180+2T>G	NP_001268357.1:n.180+2T>G
NM_012144.3:c.180+2T>G	NP_036276.1:n.180+2T>G
ENST00000242317.8:c.180+2T>G	ENSP00000242317.4:n.180+2T>G
ENST00000437363.5:c.147+2T>G	ENSP00000395396.1:n.147+2T>G
ENST00000470982.5:n.181T>G
ENST00000488369.1:n.195+2T>G
ENST00000614641.4:c.180+2T>G	ENSP00000480538.1:n.180+2T>G
XM_006716758.3:c.-297+2T>G	XP_006716821.1:n.-297+2T>G
XM_011517846.1:c.180+2T>G	XP_011516148.1:n.180+2T>G
XM_011517846.2:c.180+2T>G	XP_011516148.1:n.180+2T>G
XM_011517847.1:c.180+2T>G	XP_011516149.1:n.180+2T>G
XM_011517847.3:c.180+2T>G	XP_011516149.1:n.180+2T>G
XM_011517848.1:c.180+2T>G	XP_011516150.1:n.180+2T>G
XM_011517848.2:c.180+2T>G	XP_011516150.1:n.180+2T>G
XM_011517849.1:c.180+2T>G	XP_011516151.1:n.180+2T>G
XM_011517849.2:c.180+2T>G	XP_011516151.1:n.180+2T>G
XM_011517850.1:c.180+2T>G	XP_011516152.1:n.180+2T>G
XM_011517850.3:c.180+2T>G	XP_011516152.1:n.180+2T>G
XM_017014625.2:c.180+2T>G	XP_016870114.1:n.180+2T>G
XR_002956774.1:n.381+2T>G
XR_929232.1:n.434+2T>G
XR_929232.2:n.381+2T>G
XR_929233.1:n.434+2T>G
XR_929233.2:n.381+2T>G
XR_929235.1:n.434+2T>G