Canonical Allele Identifier: CA546574145

Gene: ATR

Linked Data

• dbSNP Id: rs1428236697
• gnomAD v2: 3-142188651-A-C
• gnomAD v3: 3-142469809-A-C
• gnomAD v4: 3-142469809-A-C
• MyVariant Identifiers: chr3:g.142188651A>C (hg19) ; chr3:g.142469809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142469809A>C , CM000665.2:g.142469809A>C	GRCh38
NC_000003.11:g.142188651A>C , CM000665.1:g.142188651A>C	GRCh37
NC_000003.10:g.143671341A>C	NCBI36
NG_008951.1:g.114018T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6320-240T>G MANE Select	ENSP00000343741.4:n.6320-240T>G
ENST00000513291.2:n.1504-240T>G
ENST00000654170.1:n.1163-240T>G
ENST00000656590.1:c.5110-240T>G
ENST00000661310.1:c.6128-240T>G	ENSP00000499589.1:n.6128-240T>G
ENST00000665483.1:n.175-240T>G
ENST00000666447.1:n.155-240T>G
ENST00000666943.1:n.1784-240T>G
ENST00000350721.8:c.6320-240T>G	ENSP00000343741.4:n.6320-240T>G
NM_001184.3:c.6320-240T>G	NP_001175.2:n.6320-240T>G
XM_011512924.1:c.6326-240T>G	XP_011511226.1:n.6326-240T>G
XM_011512925.1:c.6134-240T>G	XP_011511227.1:n.6134-240T>G
XR_924147.1:n.6415-240T>G
XR_924148.1:n.6415-240T>G
XR_924149.1:n.6294-240T>G
NM_001354579.1:c.6128-240T>G	NP_001341508.1:n.6128-240T>G
XR_001740179.2:n.6409-240T>G
XR_001740180.2:n.6463-240T>G
XR_001740181.2:n.6342-240T>G
XR_001740182.1:n.6294-240T>G
XR_002959543.1:n.6519-240T>G
XR_924148.2:n.6415-240T>G
NM_001184.4:c.6320-240T>G MANE Select	NP_001175.2:n.6320-240T>G
NM_001354579.2:c.6128-240T>G	NP_001341508.1:n.6128-240T>G