Canonical Allele Identifier: CA546574349

Gene: ATR

Linked Data

• dbSNP Id: rs1424335901
• gnomAD v2: 3-142189057-C-G
• gnomAD v4: 3-142470215-C-G
• MyVariant Identifiers: chr3:g.142189057C>G (hg19) ; chr3:g.142470215C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470215C>G , CM000665.2:g.142470215C>G	GRCh38
NC_000003.11:g.142189057C>G , CM000665.1:g.142189057C>G	GRCh37
NC_000003.10:g.143671747C>G	NCBI36
NG_008951.1:g.113612G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6222-32G>C MANE Select	ENSP00000343741.4:n.6222-32G>C
ENST00000513291.2:n.1406-32G>C
ENST00000654170.1:n.1065-32G>C
ENST00000656590.1:c.5012-32G>C
ENST00000661310.1:c.6030-32G>C	ENSP00000499589.1:n.6030-32G>C
ENST00000665483.1:n.77-32G>C
ENST00000666447.1:n.57-32G>C
ENST00000666943.1:n.1686-32G>C
ENST00000350721.8:c.6222-32G>C	ENSP00000343741.4:n.6222-32G>C
NM_001184.3:c.6222-32G>C	NP_001175.2:n.6222-32G>C
XM_011512924.1:c.6228-32G>C	XP_011511226.1:n.6228-32G>C
XM_011512925.1:c.6036-32G>C	XP_011511227.1:n.6036-32G>C
XR_924147.1:n.6317-32G>C
XR_924148.1:n.6317-32G>C
XR_924149.1:n.6196-32G>C
NM_001354579.1:c.6030-32G>C	NP_001341508.1:n.6030-32G>C
XR_001740179.2:n.6311-32G>C
XR_001740180.2:n.6365-32G>C
XR_001740181.2:n.6244-32G>C
XR_001740182.1:n.6196-32G>C
XR_002959543.1:n.6421-32G>C
XR_924148.2:n.6317-32G>C
NM_001184.4:c.6222-32G>C MANE Select	NP_001175.2:n.6222-32G>C
NM_001354579.2:c.6030-32G>C	NP_001341508.1:n.6030-32G>C