Canonical Allele Identifier: CA546577621

Gene: ATR

Linked Data

• dbSNP Id: rs1392324873
• gnomAD v2: 3-142216926-A-C
• gnomAD v3: 3-142498084-A-C
• gnomAD v4: 3-142498084-A-C
• MyVariant Identifiers: chr3:g.142216926A>C (hg19) ; chr3:g.142498084A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142498084A>C , CM000665.2:g.142498084A>C	GRCh38
NC_000003.11:g.142216926A>C , CM000665.1:g.142216926A>C	GRCh37
NC_000003.10:g.143699616A>C	NCBI36
NG_008951.1:g.85743T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.5558+513T>G MANE Select	ENSP00000343741.4:n.5558+513T>G
ENST00000513291.2:n.742+513T>G
ENST00000653868.1:n.5587+513T>G
ENST00000656590.1:c.4348+513T>G
ENST00000661310.1:c.5366+513T>G	ENSP00000499589.1:n.5366+513T>G
ENST00000666943.1:n.1022+513T>G
ENST00000350721.8:c.5558+513T>G	ENSP00000343741.4:n.5558+513T>G
ENST00000507620.2:n.654+513T>G
ENST00000514393.5:n.241+513T>G
NM_001184.3:c.5558+513T>G	NP_001175.2:n.5558+513T>G
XM_011512924.1:c.5564+513T>G	XP_011511226.1:n.5564+513T>G
XM_011512925.1:c.5372+513T>G	XP_011511227.1:n.5372+513T>G
XM_011512926.1:c.5564+513T>G	XP_011511228.1:n.5564+513T>G
XM_011512927.1:c.5564+513T>G	XP_011511229.1:n.5564+513T>G
XR_924147.1:n.5653+513T>G
XR_924148.1:n.5653+513T>G
XR_924149.1:n.5653+513T>G
NM_001354579.1:c.5366+513T>G	NP_001341508.1:n.5366+513T>G
XR_001740179.2:n.5647+513T>G
XR_001740180.2:n.5653+513T>G
XR_001740181.2:n.5653+513T>G
XR_001740182.1:n.5653+513T>G
XR_002959543.1:n.5653+513T>G
XR_924148.2:n.5653+513T>G
NM_001184.4:c.5558+513T>G MANE Select	NP_001175.2:n.5558+513T>G
NM_001354579.2:c.5366+513T>G	NP_001341508.1:n.5366+513T>G