Canonical Allele Identifier: CA373248894
Community Standard Title: NM_012144.4(DNAI1):c.682-1G>A
Gene: DNAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34493193G>A , CM000671.2:g.34493193G>A GRCh38
NC_000009.11:g.34493191G>A , CM000671.1:g.34493191G>A GRCh37
NC_000009.10:g.34483191G>A NCBI36
NG_008127.1:g.39381G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012144.4:c.682-1G>A MANE Select NP_036276.1:n.682-1G>A
ENST00000242317.9:c.682-1G>A MANE Select ENSP00000242317.4:n.682-1G>A
NM_001281428.1:c.694-1G>A NP_001268357.1:n.694-1G>A
NM_001281428.2:c.694-1G>A NP_001268357.1:n.694-1G>A
NM_012144.3:c.682-1G>A NP_036276.1:n.682-1G>A
ENST00000242317.8:c.682-1G>A ENSP00000242317.4:n.682-1G>A
ENST00000437363.5:c.649-1G>A ENSP00000395396.1:n.649-1G>A
ENST00000488369.1:n.798-1G>A
ENST00000488790.1:n.213-1G>A
ENST00000614641.4:c.694-1G>A ENSP00000480538.1:n.694-1G>A
XM_006716758.2:c.151-1G>A XP_006716821.1:n.151-1G>A
XM_006716758.3:c.151-1G>A XP_006716821.1:n.151-1G>A
XM_011517846.1:c.694-1G>A XP_011516148.1:n.694-1G>A
XM_011517846.2:c.694-1G>A XP_011516148.1:n.694-1G>A
XM_011517847.1:c.694-1G>A XP_011516149.1:n.694-1G>A
XM_011517847.3:c.694-1G>A XP_011516149.1:n.694-1G>A
XM_011517848.1:c.694-1G>A XP_011516150.1:n.694-1G>A
XM_011517848.2:c.694-1G>A XP_011516150.1:n.694-1G>A
XM_011517849.1:c.694-1G>A XP_011516151.1:n.694-1G>A
XM_011517849.2:c.694-1G>A XP_011516151.1:n.694-1G>A
XM_011517850.1:c.694-1G>A XP_011516152.1:n.694-1G>A
XM_011517850.3:c.694-1G>A XP_011516152.1:n.694-1G>A
XM_017014625.2:c.682-1G>A XP_016870114.1:n.682-1G>A
XR_002956774.1:n.895-1G>A
XR_929232.1:n.948-1G>A
XR_929232.2:n.895-1G>A
XR_929233.1:n.948-1G>A
XR_929233.2:n.895-1G>A
XR_929235.1:n.948-1G>A