Canonical Allele Identifier: CA373266133

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517283G>T (hg19) ; chr9:g.34517285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517285G>T , CM000671.2:g.34517285G>T	GRCh38
NC_000009.11:g.34517283G>T , CM000671.1:g.34517283G>T	GRCh37
NC_000009.10:g.34507283G>T	NCBI36
NG_008127.1:g.63473G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819G>T MANE Select	ENSP00000242317.4:p.Ala607Ser
ENST00000242317.8:c.1819G>T	ENSP00000242317.4:p.Ala607Ser
ENST00000442556.1:c.329+2546G>T
ENST00000470169.5:c.607G>T
ENST00000485580.1:n.395G>T
ENST00000614641.4:c.1831G>T	ENSP00000480538.1:p.Ala611Ser
NM_001281428.1:c.1831G>T	NP_001268357.1:p.Ala611Ser
NM_012144.3:c.1819G>T	NP_036276.1:p.Ala607Ser
XM_006716758.2:c.1288G>T	XP_006716821.1:p.Ala430Ser
XM_011517848.1:c.1573G>T	XP_011516150.1:p.Ala525Ser
XM_006716758.3:c.1288G>T	XP_006716821.1:p.Ala430Ser
XM_011517848.2:c.1573G>T	XP_011516150.1:p.Ala525Ser
XM_017014625.2:c.1561G>T	XP_016870114.1:p.Ala521Ser
XR_002956774.1:n.1922G>T
NM_012144.4:c.1819G>T MANE Select	NP_036276.1:p.Ala607Ser
NM_001281428.2:c.1831G>T	NP_001268357.1:p.Ala611Ser