Canonical Allele Identifier: CA84755383

Gene: ATR

Linked Data

• dbSNP Id: rs550810753
• gnomAD v2: 3-142280976-A-C
• gnomAD v3: 3-142562134-A-C
• gnomAD v4: 3-142562134-A-C
• MyVariant Identifiers: chr3:g.142280976A>C (hg19) ; chr3:g.142562134A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562134A>C , CM000665.2:g.142562134A>C	GRCh38
NC_000003.11:g.142280976A>C , CM000665.1:g.142280976A>C	GRCh37
NC_000003.10:g.143763666A>C	NCBI36
NG_008951.1:g.21693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1170+98T>G MANE Select	ENSP00000343741.4:n.1170+98T>G
ENST00000515149.3:c.293-713T>G	ENSP00000425897.3:n.293-713T>G
ENST00000653868.1:n.1199+98T>G
ENST00000657914.1:n.3528+98T>G
ENST00000659195.1:n.3333T>G
ENST00000661310.1:c.1170+98T>G	ENSP00000499589.1:n.1170+98T>G
ENST00000350721.8:c.1170+98T>G	ENSP00000343741.4:n.1170+98T>G
ENST00000507148.1:c.*106+98T>G	ENSP00000426595.1:n.*106+98T>G
ENST00000515149.2:c.213+98T>G	ENSP00000425897.2:n.213+98T>G
NM_001184.3:c.1170+98T>G	NP_001175.2:n.1170+98T>G
XM_011512924.1:c.1170+98T>G	XP_011511226.1:n.1170+98T>G
XM_011512925.1:c.1170+98T>G	XP_011511227.1:n.1170+98T>G
XM_011512926.1:c.1170+98T>G	XP_011511228.1:n.1170+98T>G
XM_011512927.1:c.1170+98T>G	XP_011511229.1:n.1170+98T>G
XR_924147.1:n.1259+98T>G
XR_924148.1:n.1259+98T>G
XR_924149.1:n.1259+98T>G
NM_001354579.1:c.1170+98T>G	NP_001341508.1:n.1170+98T>G
XR_001740179.2:n.1259+98T>G
XR_001740180.2:n.1259+98T>G
XR_001740181.2:n.1259+98T>G
XR_001740182.1:n.1259+98T>G
XR_002959543.1:n.1259+98T>G
XR_924148.2:n.1259+98T>G
NM_001184.4:c.1170+98T>G MANE Select	NP_001175.2:n.1170+98T>G
NM_001354579.2:c.1170+98T>G	NP_001341508.1:n.1170+98T>G