Canonical Allele Identifier: CA192653345

Gene: DNAI1

Linked Data

• dbSNP Id: rs987973780
• gnomAD v3: 9-34517186-C-T
• gnomAD v4: 9-34517186-C-T
• MyVariant Identifiers: chr9:g.34517184C>T (hg19) ; chr9:g.34517186C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517186C>T , CM000671.2:g.34517186C>T	GRCh38
NC_000009.11:g.34517184C>T , CM000671.1:g.34517184C>T	GRCh37
NC_000009.10:g.34507184C>T	NCBI36
NG_008127.1:g.63374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-99C>T MANE Select	ENSP00000242317.4:n.1819-99C>T
ENST00000242317.8:c.1819-99C>T	ENSP00000242317.4:n.1819-99C>T
ENST00000442556.1:c.329+2447C>T
ENST00000470169.5:c.607-99C>T
ENST00000485580.1:n.395-99C>T
ENST00000614641.4:c.1831-99C>T	ENSP00000480538.1:n.1831-99C>T
NM_001281428.1:c.1831-99C>T	NP_001268357.1:n.1831-99C>T
NM_012144.3:c.1819-99C>T	NP_036276.1:n.1819-99C>T
XM_006716758.2:c.1288-99C>T	XP_006716821.1:n.1288-99C>T
XM_011517847.1:c.1831-9C>T	XP_011516149.1:n.1831-9C>T
XM_011517848.1:c.1573-99C>T	XP_011516150.1:n.1573-99C>T
XR_929233.1:n.1975-9C>T
XM_006716758.3:c.1288-99C>T	XP_006716821.1:n.1288-99C>T
XM_011517847.3:c.1831-9C>T	XP_011516149.1:n.1831-9C>T
XM_011517848.2:c.1573-99C>T	XP_011516150.1:n.1573-99C>T
XM_017014625.2:c.1561-99C>T	XP_016870114.1:n.1561-99C>T
XR_002956774.1:n.1922-99C>T
XR_929233.2:n.1922-9C>T
NM_012144.4:c.1819-99C>T MANE Select	NP_036276.1:n.1819-99C>T
NM_001281428.2:c.1831-99C>T	NP_001268357.1:n.1831-99C>T