Canonical Allele Identifier: CA5034097

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34490397T>A , CM000671.2:g.34490397T>A	GRCh38
NC_000009.11:g.34490395T>A , CM000671.1:g.34490395T>A	GRCh37
NC_000009.10:g.34480395T>A	NCBI36
NG_008127.1:g.36585T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.530T>A MANE Select	NP_036276.1:p.Leu177Ter
ENST00000242317.9:c.530T>A MANE Select	ENSP00000242317.4:p.Leu177Ter
NM_001281428.1:c.542T>A	NP_001268357.1:p.Leu181Ter
NM_001281428.2:c.542T>A	NP_001268357.1:p.Leu181Ter
NM_012144.3:c.530T>A	NP_036276.1:p.Leu177Ter
ENST00000242317.8:c.530T>A	ENSP00000242317.4:p.Leu177Ter
ENST00000437363.5:c.497T>A	ENSP00000395396.1:p.Leu166Ter
ENST00000488369.1:n.646T>A
ENST00000614641.4:c.542T>A	ENSP00000480538.1:p.Leu181Ter
XM_006716758.2:c.-2T>A	XP_006716821.1:n.-2T>A
XM_006716758.3:c.-2T>A	XP_006716821.1:n.-2T>A
XM_011517846.1:c.542T>A	XP_011516148.1:p.Leu181Ter
XM_011517846.2:c.542T>A	XP_011516148.1:p.Leu181Ter
XM_011517847.1:c.542T>A	XP_011516149.1:p.Leu181Ter
XM_011517847.3:c.542T>A	XP_011516149.1:p.Leu181Ter
XM_011517848.1:c.542T>A	XP_011516150.1:p.Leu181Ter
XM_011517848.2:c.542T>A	XP_011516150.1:p.Leu181Ter
XM_011517849.1:c.542T>A	XP_011516151.1:p.Leu181Ter
XM_011517849.2:c.542T>A	XP_011516151.1:p.Leu181Ter
XM_011517850.1:c.542T>A	XP_011516152.1:p.Leu181Ter
XM_011517850.3:c.542T>A	XP_011516152.1:p.Leu181Ter
XM_017014625.2:c.530T>A	XP_016870114.1:p.Leu177Ter
XR_002956774.1:n.743T>A
XR_929232.1:n.796T>A
XR_929232.2:n.743T>A
XR_929233.1:n.796T>A
XR_929233.2:n.743T>A
XR_929235.1:n.796T>A