Canonical Allele Identifier: CA464398145

Gene: DNAI1

Linked Data

• dbSNP Id: rs1337443282
• gnomAD v2: 9-34506854-C-T
• gnomAD v3: 9-34506856-C-T
• gnomAD v4: 9-34506856-C-T
• COSMIC: COSM1108470
• MyVariant Identifiers: chr9:g.34506854C>T (hg19) ; chr9:g.34506856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506856C>T , CM000671.2:g.34506856C>T	GRCh38
NC_000009.11:g.34506854C>T , CM000671.1:g.34506854C>T	GRCh37
NC_000009.10:g.34496854C>T	NCBI36
NG_008127.1:g.53044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1293C>T MANE Select	ENSP00000242317.4:p.His431=
ENST00000242317.8:c.1293C>T	ENSP00000242317.4:p.His431=
ENST00000470169.5:c.230C>T
ENST00000614641.4:c.1305C>T	ENSP00000480538.1:p.His435=
NM_001281428.1:c.1305C>T	NP_001268357.1:p.His435=
NM_012144.3:c.1293C>T	NP_036276.1:p.His431=
XM_006716758.2:c.762C>T	XP_006716821.1:p.His254=
XM_011517846.1:c.1305C>T	XP_011516148.1:p.His435=
XM_011517847.1:c.1305C>T	XP_011516149.1:p.His435=
XM_011517848.1:c.1305C>T	XP_011516150.1:p.His435=
XM_011517849.1:c.1305C>T	XP_011516151.1:p.His435=
XM_011517850.1:c.1305C>T	XP_011516152.1:p.His435=
XR_929232.1:n.1559C>T
XR_929233.1:n.1559C>T
XR_929235.1:n.1559C>T
XM_006716758.3:c.762C>T	XP_006716821.1:p.His254=
XM_011517846.2:c.1305C>T	XP_011516148.1:p.His435=
XM_011517847.3:c.1305C>T	XP_011516149.1:p.His435=
XM_011517848.2:c.1305C>T	XP_011516150.1:p.His435=
XM_011517849.2:c.1305C>T	XP_011516151.1:p.His435=
XM_011517850.3:c.1305C>T	XP_011516152.1:p.His435=
XM_017014625.2:c.1293C>T	XP_016870114.1:p.His431=
XR_002956774.1:n.1506C>T
XR_929232.2:n.1506C>T
XR_929233.2:n.1506C>T
NM_012144.4:c.1293C>T MANE Select	NP_036276.1:p.His431=
NM_001281428.2:c.1305C>T	NP_001268357.1:p.His435=