Canonical Allele Identifier: CA436126626

Gene: ATR

Linked Data

• ClinVar Variation Id: 1794286
• ClinVar RCV Id: RCV002453036
• MyVariant Identifiers: chr3:g.142272225A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553383A>G , CM000665.2:g.142553383A>G	GRCh38
NC_000003.11:g.142272225A>G , CM000665.1:g.142272225A>G	GRCh37
NC_000003.10:g.143754915A>G	NCBI36
NG_008951.1:g.30444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2649T>C MANE Select	ENSP00000343741.4:p.Asp883=
ENST00000515149.3:c.*1423T>C	ENSP00000425897.3:n.*1423T>C
ENST00000653868.1:n.2678T>C
ENST00000656590.1:c.1439T>C
ENST00000659195.1:n.5524T>C
ENST00000661310.1:c.2457T>C	ENSP00000499589.1:p.Asp819=
ENST00000350721.8:c.2649T>C	ENSP00000343741.4:p.Asp883=
NM_001184.3:c.2649T>C	NP_001175.2:p.Asp883=
XM_011512924.1:c.2649T>C	XP_011511226.1:p.Asp883=
XM_011512925.1:c.2457T>C	XP_011511227.1:p.Asp819=
XM_011512926.1:c.2649T>C	XP_011511228.1:p.Asp883=
XM_011512927.1:c.2649T>C	XP_011511229.1:p.Asp883=
XR_924147.1:n.2738T>C
XR_924148.1:n.2738T>C
XR_924149.1:n.2738T>C
NM_001354579.1:c.2457T>C	NP_001341508.1:p.Asp819=
XR_001740179.2:n.2738T>C
XR_001740180.2:n.2738T>C
XR_001740181.2:n.2738T>C
XR_001740182.1:n.2738T>C
XR_002959543.1:n.2738T>C
XR_924148.2:n.2738T>C
NM_001184.4:c.2649T>C MANE Select	NP_001175.2:p.Asp883=
NM_001354579.2:c.2457T>C	NP_001341508.1:p.Asp819=