Canonical Allele Identifier: CA2579327514

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517235-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517235G>T , CM000671.2:g.34517235G>T	GRCh38
NC_000009.11:g.34517233G>T , CM000671.1:g.34517233G>T	GRCh37
NC_000009.10:g.34507233G>T	NCBI36
NG_008127.1:g.63423G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-50G>T MANE Select	ENSP00000242317.4:n.1819-50G>T
ENST00000242317.8:c.1819-50G>T	ENSP00000242317.4:n.1819-50G>T
ENST00000442556.1:c.329+2496G>T
ENST00000470169.5:c.607-50G>T
ENST00000485580.1:n.395-50G>T
ENST00000614641.4:c.1831-50G>T	ENSP00000480538.1:n.1831-50G>T
NM_001281428.1:c.1831-50G>T	NP_001268357.1:n.1831-50G>T
NM_012144.3:c.1819-50G>T	NP_036276.1:n.1819-50G>T
XM_006716758.2:c.1288-50G>T	XP_006716821.1:n.1288-50G>T
XM_011517847.1:c.*5G>T	XP_011516149.1:n.*5G>T
XM_011517848.1:c.1573-50G>T	XP_011516150.1:n.1573-50G>T
XR_929233.1:n.2015G>T
XM_006716758.3:c.1288-50G>T	XP_006716821.1:n.1288-50G>T
XM_011517847.3:c.*5G>T	XP_011516149.1:n.*5G>T
XM_011517848.2:c.1573-50G>T	XP_011516150.1:n.1573-50G>T
XM_017014625.2:c.1561-50G>T	XP_016870114.1:n.1561-50G>T
XR_002956774.1:n.1922-50G>T
XR_929233.2:n.1962G>T
NM_012144.4:c.1819-50G>T MANE Select	NP_036276.1:n.1819-50G>T
NM_001281428.2:c.1831-50G>T	NP_001268357.1:n.1831-50G>T