Canonical Allele Identifier: CA354805801

Gene: ATR

Linked Data

• gnomAD v4: 3-142470139-C-A
• MyVariant Identifiers: chr3:g.142188981C>A (hg19) ; chr3:g.142470139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470139C>A , CM000665.2:g.142470139C>A	GRCh38
NC_000003.11:g.142188981C>A , CM000665.1:g.142188981C>A	GRCh37
NC_000003.10:g.143671671C>A	NCBI36
NG_008951.1:g.113688G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.6266G>T MANE Select	ENSP00000343741.4:p.Arg2089Leu
ENST00000513291.2:n.1450G>T
ENST00000654170.1:n.1109G>T
ENST00000656590.1:c.5056G>T
ENST00000661310.1:c.6074G>T	ENSP00000499589.1:p.Arg2025Leu
ENST00000665483.1:n.121G>T
ENST00000666447.1:n.101G>T
ENST00000666943.1:n.1730G>T
ENST00000350721.8:c.6266G>T	ENSP00000343741.4:p.Arg2089Leu
NM_001184.3:c.6266G>T	NP_001175.2:p.Arg2089Leu
XM_011512924.1:c.6272G>T	XP_011511226.1:p.Arg2091Leu
XM_011512925.1:c.6080G>T	XP_011511227.1:p.Arg2027Leu
XR_924147.1:n.6361G>T
XR_924148.1:n.6361G>T
XR_924149.1:n.6240G>T
NM_001354579.1:c.6074G>T	NP_001341508.1:p.Arg2025Leu
XR_001740179.2:n.6355G>T
XR_001740180.2:n.6409G>T
XR_001740181.2:n.6288G>T
XR_001740182.1:n.6240G>T
XR_002959543.1:n.6465G>T
XR_924148.2:n.6361G>T
NM_001184.4:c.6266G>T MANE Select	NP_001175.2:p.Arg2089Leu
NM_001354579.2:c.6074G>T	NP_001341508.1:p.Arg2025Leu