Canonical Allele Identifier: CA5034576

Gene: DNAI1

Linked Data

• dbSNP Id: rs765804042
• ExAC: 9:34517370 C / A
• gnomAD v2: 9-34517370-C-A
• gnomAD v3: 9-34517372-C-A
• gnomAD v4: 9-34517372-C-A
• MyVariant Identifiers: chr9:g.34517370C>A (hg19) ; chr9:g.34517372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517372C>A , CM000671.2:g.34517372C>A	GRCh38
NC_000009.11:g.34517370C>A , CM000671.1:g.34517370C>A	GRCh37
NC_000009.10:g.34507370C>A	NCBI36
NG_008127.1:g.63560C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1906C>A MANE Select	ENSP00000242317.4:p.Gln636Lys
ENST00000242317.8:c.1906C>A	ENSP00000242317.4:p.Gln636Lys
ENST00000442556.1:c.329+2633C>A
ENST00000470169.5:c.694C>A
ENST00000485580.1:n.482C>A
ENST00000614641.4:c.1918C>A	ENSP00000480538.1:p.Gln640Lys
NM_001281428.1:c.1918C>A	NP_001268357.1:p.Gln640Lys
NM_012144.3:c.1906C>A	NP_036276.1:p.Gln636Lys
XM_006716758.2:c.1375C>A	XP_006716821.1:p.Gln459Lys
XM_011517848.1:c.1660C>A	XP_011516150.1:p.Gln554Lys
XM_006716758.3:c.1375C>A	XP_006716821.1:p.Gln459Lys
XM_011517848.2:c.1660C>A	XP_011516150.1:p.Gln554Lys
XM_017014625.2:c.1648C>A	XP_016870114.1:p.Gln550Lys
XR_002956774.1:n.2009C>A
NM_012144.4:c.1906C>A MANE Select	NP_036276.1:p.Gln636Lys
NM_001281428.2:c.1918C>A	NP_001268357.1:p.Gln640Lys