Canonical Allele Identifier: CA5034471

Gene: DNAI1

Linked Data

• dbSNP Id: rs764324297
• ExAC: 9:34514403 C / G
• gnomAD v2: 9-34514403-C-G
• gnomAD v4: 9-34514405-C-G
• MyVariant Identifiers: chr9:g.34514403C>G (hg19) ; chr9:g.34514405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514405C>G , CM000671.2:g.34514405C>G	GRCh38
NC_000009.11:g.34514403C>G , CM000671.1:g.34514403C>G	GRCh37
NC_000009.10:g.34504403C>G	NCBI36
NG_008127.1:g.60593C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1581C>G MANE Select	ENSP00000242317.4:p.Ser527=
ENST00000242317.8:c.1581C>G	ENSP00000242317.4:p.Ser527=
ENST00000442556.1:c.92C>G
ENST00000470169.5:c.507-235C>G
ENST00000485580.1:n.60C>G
ENST00000614641.4:c.1593C>G	ENSP00000480538.1:p.Ser531=
NM_001281428.1:c.1593C>G	NP_001268357.1:p.Ser531=
NM_012144.3:c.1581C>G	NP_036276.1:p.Ser527=
XM_006716758.2:c.1050C>G	XP_006716821.1:p.Ser350=
XM_011517846.1:c.1593C>G	XP_011516148.1:p.Ser531=
XM_011517847.1:c.1593C>G	XP_011516149.1:p.Ser531=
XM_011517848.1:c.1335C>G	XP_011516150.1:p.Ser445=
XM_011517849.1:c.1582-99C>G	XP_011516151.1:n.1582-99C>G
XR_929232.1:n.1836-99C>G
XR_929233.1:n.1836-99C>G
XR_929235.1:n.1578-99C>G
XM_006716758.3:c.1050C>G	XP_006716821.1:p.Ser350=
XM_011517846.2:c.1593C>G	XP_011516148.1:p.Ser531=
XM_011517847.3:c.1593C>G	XP_011516149.1:p.Ser531=
XM_011517848.2:c.1335C>G	XP_011516150.1:p.Ser445=
XM_011517849.2:c.1582-99C>G	XP_011516151.1:n.1582-99C>G
XM_017014625.2:c.1323C>G	XP_016870114.1:p.Ser441=
XR_002956774.1:n.1783-99C>G
XR_929232.2:n.1783-99C>G
XR_929233.2:n.1783-99C>G
NM_012144.4:c.1581C>G MANE Select	NP_036276.1:p.Ser527=
NM_001281428.2:c.1593C>G	NP_001268357.1:p.Ser531=