Canonical Allele Identifier: CA354793959

Gene: ATR

Linked Data

• dbSNP Id: rs2108242658
• MyVariant Identifiers: chr3:g.142168429G>A (hg19) ; chr3:g.142449587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449587G>A , CM000665.2:g.142449587G>A	GRCh38
NC_000003.11:g.142168429G>A , CM000665.1:g.142168429G>A	GRCh37
NC_000003.10:g.143651119G>A	NCBI36
NG_008951.1:g.134240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7777C>T MANE Select	ENSP00000343741.4:p.Leu2593Phe
ENST00000513291.2:n.6486C>T
ENST00000653893.1:n.2635C>T
ENST00000654170.1:n.2620C>T
ENST00000656114.1:n.2863C>T
ENST00000656590.1:c.6704C>T
ENST00000658083.1:n.2957C>T
ENST00000661310.1:c.7585C>T	ENSP00000499589.1:p.Leu2529Phe
ENST00000665483.1:n.5317C>T
ENST00000666447.1:n.4280C>T
ENST00000666943.1:n.4509C>T
ENST00000350721.8:c.7777C>T	ENSP00000343741.4:p.Leu2593Phe
ENST00000504521.5:c.366C>T	ENSP00000422553.1:n.366C>T
ENST00000513291.1:c.4841C>T
ENST00000515810.1:c.203C>T	ENSP00000421870.1:n.203C>T
NM_001184.3:c.7777C>T	NP_001175.2:p.Leu2593Phe
XM_011512924.1:c.7783C>T	XP_011511226.1:p.Leu2595Phe
XM_011512925.1:c.7591C>T	XP_011511227.1:p.Leu2531Phe
XR_924147.1:n.10534C>T
XR_924148.1:n.8009C>T
NM_001354579.1:c.7585C>T	NP_001341508.1:p.Leu2529Phe
XR_001740179.2:n.8003C>T
XR_924148.2:n.8009C>T
NM_001184.4:c.7777C>T MANE Select	NP_001175.2:p.Leu2593Phe
NM_001354579.2:c.7585C>T	NP_001341508.1:p.Leu2529Phe