Canonical Allele Identifier: CA436107193

Gene: ATR

Linked Data

• gnomAD v4: 3-142449567-T-G
• MyVariant Identifiers: chr3:g.142168409T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449567T>G , CM000665.2:g.142449567T>G	GRCh38
NC_000003.11:g.142168409T>G , CM000665.1:g.142168409T>G	GRCh37
NC_000003.10:g.143651099T>G	NCBI36
NG_008951.1:g.134260A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7797A>C MANE Select	ENSP00000343741.4:p.Leu2599=
ENST00000513291.2:n.6506A>C
ENST00000653893.1:n.2655A>C
ENST00000654170.1:n.2640A>C
ENST00000656114.1:n.2883A>C
ENST00000656590.1:c.6724A>C
ENST00000658083.1:n.2977A>C
ENST00000661310.1:c.7605A>C	ENSP00000499589.1:p.Leu2535=
ENST00000665483.1:n.5337A>C
ENST00000666447.1:n.4300A>C
ENST00000666943.1:n.4529A>C
ENST00000350721.8:c.7797A>C	ENSP00000343741.4:p.Leu2599=
ENST00000504521.5:c.386A>C	ENSP00000422553.1:n.386A>C
ENST00000513291.1:c.4861A>C
ENST00000515810.1:c.223A>C	ENSP00000421870.1:n.223A>C
NM_001184.3:c.7797A>C	NP_001175.2:p.Leu2599=
XM_011512924.1:c.7803A>C	XP_011511226.1:p.Leu2601=
XM_011512925.1:c.7611A>C	XP_011511227.1:p.Leu2537=
XR_924147.1:n.10554A>C
XR_924148.1:n.8029A>C
NM_001354579.1:c.7605A>C	NP_001341508.1:p.Leu2535=
XR_001740179.2:n.8023A>C
XR_924148.2:n.8029A>C
NM_001184.4:c.7797A>C MANE Select	NP_001175.2:p.Leu2599=
NM_001354579.2:c.7605A>C	NP_001341508.1:p.Leu2535=