Canonical Allele Identifier: CA5034619

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34520720G>A , CM000671.2:g.34520720G>A	GRCh38
NC_000009.11:g.34520718G>A , CM000671.1:g.34520718G>A	GRCh37
NC_000009.10:g.34510718G>A	NCBI36
NG_008127.1:g.66908G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.2064G>A MANE Select	NP_036276.1:p.Leu688=
ENST00000242317.9:c.2064G>A MANE Select	ENSP00000242317.4:p.Leu688=
NM_001281428.1:c.2076G>A	NP_001268357.1:p.Leu692=
NM_001281428.2:c.2076G>A	NP_001268357.1:p.Leu692=
NM_012144.3:c.2064G>A	NP_036276.1:p.Leu688=
ENST00000242317.8:c.2064G>A	ENSP00000242317.4:p.Leu688=
ENST00000442556.1:c.392G>A
ENST00000614641.4:c.2076G>A	ENSP00000480538.1:p.Leu692=
XM_006716758.2:c.1533G>A	XP_006716821.1:p.Leu511=
XM_006716758.3:c.1533G>A	XP_006716821.1:p.Leu511=
XM_011517848.1:c.1818G>A	XP_011516150.1:p.Leu606=
XM_011517848.2:c.1818G>A	XP_011516150.1:p.Leu606=
XM_017014625.2:c.1806G>A	XP_016870114.1:p.Leu602=
XR_002956774.1:n.2167G>A