Canonical Allele Identifier: CA5034482

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514436G>A , CM000671.2:g.34514436G>A	GRCh38
NC_000009.11:g.34514434G>A , CM000671.1:g.34514434G>A	GRCh37
NC_000009.10:g.34504434G>A	NCBI36
NG_008127.1:g.60624G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1612G>A MANE Select	NP_036276.1:p.Ala538Thr
ENST00000242317.9:c.1612G>A MANE Select	ENSP00000242317.4:p.Ala538Thr
NM_001281428.1:c.1624G>A	NP_001268357.1:p.Ala542Thr
NM_001281428.2:c.1624G>A	NP_001268357.1:p.Ala542Thr
NM_012144.3:c.1612G>A	NP_036276.1:p.Ala538Thr
ENST00000242317.8:c.1612G>A	ENSP00000242317.4:p.Ala538Thr
ENST00000442556.1:c.123G>A
ENST00000470169.5:c.507-204G>A
ENST00000485580.1:n.91G>A
ENST00000614641.4:c.1624G>A	ENSP00000480538.1:p.Ala542Thr
XM_006716758.2:c.1081G>A	XP_006716821.1:p.Ala361Thr
XM_006716758.3:c.1081G>A	XP_006716821.1:p.Ala361Thr
XM_011517846.1:c.1624G>A	XP_011516148.1:p.Ala542Thr
XM_011517846.2:c.1624G>A	XP_011516148.1:p.Ala542Thr
XM_011517847.1:c.1624G>A	XP_011516149.1:p.Ala542Thr
XM_011517847.3:c.1624G>A	XP_011516149.1:p.Ala542Thr
XM_011517848.1:c.1366G>A	XP_011516150.1:p.Ala456Thr
XM_011517848.2:c.1366G>A	XP_011516150.1:p.Ala456Thr
XM_011517849.1:c.1582-68G>A	XP_011516151.1:n.1582-68G>A
XM_011517849.2:c.1582-68G>A	XP_011516151.1:n.1582-68G>A
XM_017014625.2:c.1354G>A	XP_016870114.1:p.Ala452Thr
XR_002956774.1:n.1783-68G>A
XR_929232.1:n.1836-68G>A
XR_929232.2:n.1783-68G>A
XR_929233.1:n.1836-68G>A
XR_929233.2:n.1783-68G>A
XR_929235.1:n.1578-68G>A