Canonical Allele Identifier: CA354796764

Gene: ATR

Linked Data

• dbSNP Id: rs1397117225
• gnomAD v3: 3-142513523-C-T
• gnomAD v4: 3-142513523-C-T
• MyVariant Identifiers: chr3:g.142232365C>T (hg19) ; chr3:g.142513523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513523C>T , CM000665.2:g.142513523C>T	GRCh38
NC_000003.11:g.142232365C>T , CM000665.1:g.142232365C>T	GRCh37
NC_000003.10:g.143715055C>T	NCBI36
NG_008951.1:g.70304G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4619G>A MANE Select	ENSP00000343741.4:p.Cys1540Tyr
ENST00000653868.1:n.4648G>A
ENST00000656590.1:c.3409G>A
ENST00000661310.1:c.4427G>A	ENSP00000499589.1:p.Cys1476Tyr
ENST00000666943.1:n.83G>A
ENST00000350721.8:c.4619G>A	ENSP00000343741.4:p.Cys1540Tyr
NM_001184.3:c.4619G>A	NP_001175.2:p.Cys1540Tyr
XM_011512924.1:c.4625G>A	XP_011511226.1:p.Cys1542Tyr
XM_011512925.1:c.4433G>A	XP_011511227.1:p.Cys1478Tyr
XM_011512926.1:c.4625G>A	XP_011511228.1:p.Cys1542Tyr
XM_011512927.1:c.4625G>A	XP_011511229.1:p.Cys1542Tyr
XR_924147.1:n.4714G>A
XR_924148.1:n.4714G>A
XR_924149.1:n.4714G>A
NM_001354579.1:c.4427G>A	NP_001341508.1:p.Cys1476Tyr
XR_001740179.2:n.4708G>A
XR_001740180.2:n.4714G>A
XR_001740181.2:n.4714G>A
XR_001740182.1:n.4714G>A
XR_002959543.1:n.4714G>A
XR_924148.2:n.4714G>A
NM_001184.4:c.4619G>A MANE Select	NP_001175.2:p.Cys1540Tyr
NM_001354579.2:c.4427G>A	NP_001341508.1:p.Cys1476Tyr