Canonical Allele Identifier: CA5034330

Gene: DNAI1

Linked Data

• dbSNP Id: rs753993302
• ExAC: 9:34506816 C / T
• gnomAD v2: 9-34506816-C-T
• gnomAD v4: 9-34506818-C-T
• MyVariant Identifiers: chr9:g.34506816C>T (hg19) ; chr9:g.34506818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506818C>T , CM000671.2:g.34506818C>T	GRCh38
NC_000009.11:g.34506816C>T , CM000671.1:g.34506816C>T	GRCh37
NC_000009.10:g.34496816C>T	NCBI36
NG_008127.1:g.53006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1255C>T MANE Select	ENSP00000242317.4:p.Gln419Ter
ENST00000242317.8:c.1255C>T	ENSP00000242317.4:p.Gln419Ter
ENST00000470169.5:c.192C>T
ENST00000614641.4:c.1267C>T	ENSP00000480538.1:p.Gln423Ter
NM_001281428.1:c.1267C>T	NP_001268357.1:p.Gln423Ter
NM_012144.3:c.1255C>T	NP_036276.1:p.Gln419Ter
XM_006716758.2:c.724C>T	XP_006716821.1:p.Gln242Ter
XM_011517846.1:c.1267C>T	XP_011516148.1:p.Gln423Ter
XM_011517847.1:c.1267C>T	XP_011516149.1:p.Gln423Ter
XM_011517848.1:c.1267C>T	XP_011516150.1:p.Gln423Ter
XM_011517849.1:c.1267C>T	XP_011516151.1:p.Gln423Ter
XM_011517850.1:c.1267C>T	XP_011516152.1:p.Gln423Ter
XR_929232.1:n.1521C>T
XR_929233.1:n.1521C>T
XR_929235.1:n.1521C>T
XM_006716758.3:c.724C>T	XP_006716821.1:p.Gln242Ter
XM_011517846.2:c.1267C>T	XP_011516148.1:p.Gln423Ter
XM_011517847.3:c.1267C>T	XP_011516149.1:p.Gln423Ter
XM_011517848.2:c.1267C>T	XP_011516150.1:p.Gln423Ter
XM_011517849.2:c.1267C>T	XP_011516151.1:p.Gln423Ter
XM_011517850.3:c.1267C>T	XP_011516152.1:p.Gln423Ter
XM_017014625.2:c.1255C>T	XP_016870114.1:p.Gln419Ter
XR_002956774.1:n.1468C>T
XR_929232.2:n.1468C>T
XR_929233.2:n.1468C>T
NM_012144.4:c.1255C>T MANE Select	NP_036276.1:p.Gln419Ter
NM_001281428.2:c.1267C>T	NP_001268357.1:p.Gln423Ter