Canonical Allele Identifier: CA373263396

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34514453A>T (hg19) ; chr9:g.34514455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514455A>T , CM000671.2:g.34514455A>T	GRCh38
NC_000009.11:g.34514453A>T , CM000671.1:g.34514453A>T	GRCh37
NC_000009.10:g.34504453A>T	NCBI36
NG_008127.1:g.60643A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1631A>T MANE Select	ENSP00000242317.4:p.Asp544Val
ENST00000242317.8:c.1631A>T	ENSP00000242317.4:p.Asp544Val
ENST00000442556.1:c.142A>T
ENST00000470169.5:c.507-185A>T
ENST00000485580.1:n.110A>T
ENST00000614641.4:c.1643A>T	ENSP00000480538.1:p.Asp548Val
NM_001281428.1:c.1643A>T	NP_001268357.1:p.Asp548Val
NM_012144.3:c.1631A>T	NP_036276.1:p.Asp544Val
XM_006716758.2:c.1100A>T	XP_006716821.1:p.Asp367Val
XM_011517846.1:c.1643A>T	XP_011516148.1:p.Asp548Val
XM_011517847.1:c.1643A>T	XP_011516149.1:p.Asp548Val
XM_011517848.1:c.1385A>T	XP_011516150.1:p.Asp462Val
XM_011517849.1:c.1582-49A>T	XP_011516151.1:n.1582-49A>T
XR_929232.1:n.1836-49A>T
XR_929233.1:n.1836-49A>T
XR_929235.1:n.1578-49A>T
XM_006716758.3:c.1100A>T	XP_006716821.1:p.Asp367Val
XM_011517846.2:c.1643A>T	XP_011516148.1:p.Asp548Val
XM_011517847.3:c.1643A>T	XP_011516149.1:p.Asp548Val
XM_011517848.2:c.1385A>T	XP_011516150.1:p.Asp462Val
XM_011517849.2:c.1582-49A>T	XP_011516151.1:n.1582-49A>T
XM_017014625.2:c.1373A>T	XP_016870114.1:p.Asp458Val
XR_002956774.1:n.1783-49A>T
XR_929232.2:n.1783-49A>T
XR_929233.2:n.1783-49A>T
NM_012144.4:c.1631A>T MANE Select	NP_036276.1:p.Asp544Val
NM_001281428.2:c.1643A>T	NP_001268357.1:p.Asp548Val