Canonical Allele Identifier: CA5034556

Gene: DNAI1

Linked Data

• dbSNP Id: rs368918814
• ExAC: 9:34517251 C / T
• gnomAD v2: 9-34517251-C-T
• gnomAD v4: 9-34517253-C-T
• MyVariant Identifiers: chr9:g.34517251C>T (hg19) ; chr9:g.34517253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517253C>T , CM000671.2:g.34517253C>T	GRCh38
NC_000009.11:g.34517251C>T , CM000671.1:g.34517251C>T	GRCh37
NC_000009.10:g.34507251C>T	NCBI36
NG_008127.1:g.63441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-32C>T MANE Select	ENSP00000242317.4:n.1819-32C>T
ENST00000242317.8:c.1819-32C>T	ENSP00000242317.4:n.1819-32C>T
ENST00000442556.1:c.329+2514C>T
ENST00000470169.5:c.607-32C>T
ENST00000485580.1:n.395-32C>T
ENST00000614641.4:c.1831-32C>T	ENSP00000480538.1:n.1831-32C>T
NM_001281428.1:c.1831-32C>T	NP_001268357.1:n.1831-32C>T
NM_012144.3:c.1819-32C>T	NP_036276.1:n.1819-32C>T
XM_006716758.2:c.1288-32C>T	XP_006716821.1:n.1288-32C>T
XM_011517847.1:c.*23C>T	XP_011516149.1:n.*23C>T
XM_011517848.1:c.1573-32C>T	XP_011516150.1:n.1573-32C>T
XR_929233.1:n.2033C>T
XM_006716758.3:c.1288-32C>T	XP_006716821.1:n.1288-32C>T
XM_011517847.3:c.*23C>T	XP_011516149.1:n.*23C>T
XM_011517848.2:c.1573-32C>T	XP_011516150.1:n.1573-32C>T
XM_017014625.2:c.1561-32C>T	XP_016870114.1:n.1561-32C>T
XR_002956774.1:n.1922-32C>T
XR_929233.2:n.1980C>T
NM_012144.4:c.1819-32C>T MANE Select	NP_036276.1:n.1819-32C>T
NM_001281428.2:c.1831-32C>T	NP_001268357.1:n.1831-32C>T