Canonical Allele Identifier: CA395723291
Gene: ITGAX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31357555C>A , CM000678.2:g.31357555C>A GRCh38
NC_000016.9:g.31368876C>A , CM000678.1:g.31368876C>A GRCh37
NC_000016.8:g.31276377C>A NCBI36
NG_011451.1:g.7368C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268296.9:c.430+191C>A MANE Select ENSP00000268296.5:n.430+191C>A
ENST00000268296.8:c.430+191C>A ENSP00000268296.4:n.430+191C>A
ENST00000562522.2:c.430+191C>A ENSP00000454623.1:n.430+191C>A
ENST00000562918.5:c.540C>A ENSP00000483860.1:p.Phe180Leu
ENST00000567409.1:n.839C>A
NM_000887.4:c.430+191C>A NP_000878.2:n.430+191C>A
NM_001286375.1:c.430+191C>A NP_001273304.1:n.430+191C>A
XM_011545852.1:c.430+191C>A XP_011544154.1:n.430+191C>A
XM_011545853.1:c.430+191C>A XP_011544155.1:n.430+191C>A
XM_011545854.1:c.430+191C>A XP_011544156.1:n.430+191C>A
XR_950797.1:n.518+191C>A
XR_950797.2:n.518+191C>A
NM_000887.5:c.430+191C>A MANE Select NP_000878.2:n.430+191C>A
NM_001286375.2:c.430+191C>A NP_001273304.1:n.430+191C>A