Canonical Allele Identifier: CA464594194

Gene: DNAI1

Linked Data

• dbSNP Id: rs2132083778
• gnomAD v4: 9-34514429-C-G
• MyVariant Identifiers: chr9:g.34514427C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514429C>G , CM000671.2:g.34514429C>G	GRCh38
NC_000009.11:g.34514427C>G , CM000671.1:g.34514427C>G	GRCh37
NC_000009.10:g.34504427C>G	NCBI36
NG_008127.1:g.60617C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1605C>G MANE Select	ENSP00000242317.4:p.Thr535=
ENST00000242317.8:c.1605C>G	ENSP00000242317.4:p.Thr535=
ENST00000442556.1:c.116C>G
ENST00000470169.5:c.507-211C>G
ENST00000485580.1:n.84C>G
ENST00000614641.4:c.1617C>G	ENSP00000480538.1:p.Thr539=
NM_001281428.1:c.1617C>G	NP_001268357.1:p.Thr539=
NM_012144.3:c.1605C>G	NP_036276.1:p.Thr535=
XM_006716758.2:c.1074C>G	XP_006716821.1:p.Thr358=
XM_011517846.1:c.1617C>G	XP_011516148.1:p.Thr539=
XM_011517847.1:c.1617C>G	XP_011516149.1:p.Thr539=
XM_011517848.1:c.1359C>G	XP_011516150.1:p.Thr453=
XM_011517849.1:c.1582-75C>G	XP_011516151.1:n.1582-75C>G
XR_929232.1:n.1836-75C>G
XR_929233.1:n.1836-75C>G
XR_929235.1:n.1578-75C>G
XM_006716758.3:c.1074C>G	XP_006716821.1:p.Thr358=
XM_011517846.2:c.1617C>G	XP_011516148.1:p.Thr539=
XM_011517847.3:c.1617C>G	XP_011516149.1:p.Thr539=
XM_011517848.2:c.1359C>G	XP_011516150.1:p.Thr453=
XM_011517849.2:c.1582-75C>G	XP_011516151.1:n.1582-75C>G
XM_017014625.2:c.1347C>G	XP_016870114.1:p.Thr449=
XR_002956774.1:n.1783-75C>G
XR_929232.2:n.1783-75C>G
XR_929233.2:n.1783-75C>G
NM_012144.4:c.1605C>G MANE Select	NP_036276.1:p.Thr535=
NM_001281428.2:c.1617C>G	NP_001268357.1:p.Thr539=