Canonical Allele Identifier: CA2649818

Gene: ATR

Linked Data

• dbSNP Id: rs761958970
• ExAC: 3:142232449 G / A
• gnomAD v2: 3-142232449-G-A
• gnomAD v4: 3-142513607-G-A
• MyVariant Identifiers: chr3:g.142232449G>A (hg19) ; chr3:g.142513607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513607G>A , CM000665.2:g.142513607G>A	GRCh38
NC_000003.11:g.142232449G>A , CM000665.1:g.142232449G>A	GRCh37
NC_000003.10:g.143715139G>A	NCBI36
NG_008951.1:g.70220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4535C>T MANE Select	ENSP00000343741.4:p.Thr1512Ile
ENST00000653868.1:n.4564C>T
ENST00000656590.1:c.3325C>T
ENST00000661310.1:c.4343C>T	ENSP00000499589.1:p.Thr1448Ile
ENST00000350721.8:c.4535C>T	ENSP00000343741.4:p.Thr1512Ile
NM_001184.3:c.4535C>T	NP_001175.2:p.Thr1512Ile
XM_011512924.1:c.4541C>T	XP_011511226.1:p.Thr1514Ile
XM_011512925.1:c.4349C>T	XP_011511227.1:p.Thr1450Ile
XM_011512926.1:c.4541C>T	XP_011511228.1:p.Thr1514Ile
XM_011512927.1:c.4541C>T	XP_011511229.1:p.Thr1514Ile
XR_924147.1:n.4630C>T
XR_924148.1:n.4630C>T
XR_924149.1:n.4630C>T
NM_001354579.1:c.4343C>T	NP_001341508.1:p.Thr1448Ile
XR_001740179.2:n.4624C>T
XR_001740180.2:n.4630C>T
XR_001740181.2:n.4630C>T
XR_001740182.1:n.4630C>T
XR_002959543.1:n.4630C>T
XR_924148.2:n.4630C>T
NM_001184.4:c.4535C>T MANE Select	NP_001175.2:p.Thr1512Ile
NM_001354579.2:c.4343C>T	NP_001341508.1:p.Thr1448Ile