Canonical Allele Identifier: CA2217016746
Community Standard Title: NM_000887.5(ITGAX):c.430+189T=
Gene: ITGAX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31357553T= , CM000678.2:g.31357553T= GRCh38
NC_000016.9:g.31368874T= , CM000678.1:g.31368874T= GRCh37
NC_000016.8:g.31276375T= NCBI36
NG_011451.1:g.7366T=

Transcript Alleles

HGVS Amino-acid Change
NM_000887.5:c.430+189T= MANE Select NP_000878.2:n.430+189T=
ENST00000268296.9:c.430+189T= MANE Select ENSP00000268296.5:n.430+189T=
NM_000887.4:c.430+189T= NP_000878.2:n.430+189T=
NM_001286375.1:c.430+189T= NP_001273304.1:n.430+189T=
NM_001286375.2:c.430+189T= NP_001273304.1:n.430+189T=
ENST00000268296.8:c.430+189T= ENSP00000268296.4:n.430+189T=
ENST00000562522.2:c.430+189T= ENSP00000454623.1:n.430+189T=
ENST00000562918.5:c.538T= ENSP00000483860.1:p.Phe180=
ENST00000567409.1:n.837T=
XM_011545852.1:c.430+189T= XP_011544154.1:n.430+189T=
XM_011545853.1:c.430+189T= XP_011544155.1:n.430+189T=
XM_011545854.1:c.430+189T= XP_011544156.1:n.430+189T=
XR_950797.1:n.518+189T=
XR_950797.2:n.518+189T=