Canonical Allele Identifier: CA373266714

Gene: DNAI1

Linked Data

• dbSNP Id: rs765804042
• MyVariant Identifiers: chr9:g.34517370C>T (hg19) ; chr9:g.34517372C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1906C>T MANE Select	ENSP00000242317.4:p.Gln636Ter
ENST00000242317.8:c.1906C>T	ENSP00000242317.4:p.Gln636Ter
ENST00000442556.1:c.329+2633C>T
ENST00000470169.5:c.694C>T
ENST00000485580.1:n.482C>T
ENST00000614641.4:c.1918C>T	ENSP00000480538.1:p.Gln640Ter
NM_001281428.1:c.1918C>T	NP_001268357.1:p.Gln640Ter
NM_012144.3:c.1906C>T	NP_036276.1:p.Gln636Ter
XM_006716758.2:c.1375C>T	XP_006716821.1:p.Gln459Ter
XM_011517848.1:c.1660C>T	XP_011516150.1:p.Gln554Ter
XM_006716758.3:c.1375C>T	XP_006716821.1:p.Gln459Ter
XM_011517848.2:c.1660C>T	XP_011516150.1:p.Gln554Ter
XM_017014625.2:c.1648C>T	XP_016870114.1:p.Gln550Ter
XR_002956774.1:n.2009C>T
NM_012144.4:c.1906C>T MANE Select	NP_036276.1:p.Gln636Ter
NM_001281428.2:c.1918C>T	NP_001268357.1:p.Gln640Ter