Canonical Allele Identifier: CA354825127

Gene: ATR

Linked Data

• dbSNP Id: rs777402533
• MyVariant Identifiers: chr3:g.142281375A>T (hg19) ; chr3:g.142562533A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562533A>T , CM000665.2:g.142562533A>T	GRCh38
NC_000003.11:g.142281375A>T , CM000665.1:g.142281375A>T	GRCh37
NC_000003.10:g.143764065A>T	NCBI36
NG_008951.1:g.21294T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.869T>A MANE Select	ENSP00000343741.4:p.Leu290His
ENST00000515149.3:c.293-1112T>A	ENSP00000425897.3:n.293-1112T>A
ENST00000653868.1:n.898T>A
ENST00000657914.1:n.3227T>A
ENST00000659195.1:n.2934T>A
ENST00000661310.1:c.869T>A	ENSP00000499589.1:p.Leu290His
ENST00000350721.8:c.869T>A	ENSP00000343741.4:p.Leu290His
ENST00000507148.1:c.293-185T>A	ENSP00000426595.1:n.293-185T>A
NM_001184.3:c.869T>A	NP_001175.2:p.Leu290His
XM_011512924.1:c.869T>A	XP_011511226.1:p.Leu290His
XM_011512925.1:c.869T>A	XP_011511227.1:p.Leu290His
XM_011512926.1:c.869T>A	XP_011511228.1:p.Leu290His
XM_011512927.1:c.869T>A	XP_011511229.1:p.Leu290His
XR_924147.1:n.958T>A
XR_924148.1:n.958T>A
XR_924149.1:n.958T>A
NM_001354579.1:c.869T>A	NP_001341508.1:p.Leu290His
XR_001740179.2:n.958T>A
XR_001740180.2:n.958T>A
XR_001740181.2:n.958T>A
XR_001740182.1:n.958T>A
XR_002959543.1:n.958T>A
XR_924148.2:n.958T>A
NM_001184.4:c.869T>A MANE Select	NP_001175.2:p.Leu290His
NM_001354579.2:c.869T>A	NP_001341508.1:p.Leu290His