Canonical Allele Identifier: CA8027080

Gene: ITGAX

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31371689C>T , CM000678.2:g.31371689C>T	GRCh38
NC_000016.9:g.31383010C>T , CM000678.1:g.31383010C>T	GRCh37
NC_000016.8:g.31290511C>T	NCBI36
NG_011451.1:g.21502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268296.9:c.2065C>T MANE Select	ENSP00000268296.5:p.Arg689Cys
ENST00000268296.8:c.2065C>T	ENSP00000268296.4:p.Arg689Cys
ENST00000562138.1:n.216C>T
ENST00000562522.2:c.2065C>T	ENSP00000454623.1:p.Arg689Cys
ENST00000571644.1:n.2204C>T
NM_000887.4:c.2065C>T	NP_000878.2:p.Arg689Cys
NM_001286375.1:c.2065C>T	NP_001273304.1:p.Arg689Cys
XM_011545852.1:c.2065C>T	XP_011544154.1:p.Arg689Cys
XM_011545853.1:c.*56C>T	XP_011544155.1:n.*56C>T
XM_011545854.1:c.*56C>T	XP_011544156.1:n.*56C>T
XR_950797.1:n.2153C>T
XM_024450263.1:c.1015C>T	XP_024306031.1:p.Arg339Cys
XR_950797.2:n.2153C>T
NM_000887.5:c.2065C>T MANE Select	NP_000878.2:p.Arg689Cys
NM_001286375.2:c.2065C>T	NP_001273304.1:p.Arg689Cys