Canonical Allele Identifier: CA14218354
Gene: ITGAX HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.31357553T>C
GRCh37 chr16:g.31368874T>C
gnomAD v2:
16:31368874 T / C
gnomAD v3:
16:31357553 T / C
gnomAD v4:
chr16-31357553-T-C
Joint Max Group AF 0.28933742 (AFR)
Genomes Max Group AF 0.28901105 (AFR)
Exomes Max Group AF 0.28429463 (AFR)
dbSNP:
11574637
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000268296.9:c.430+189T>C MANE Select ENSP00000268296.5:n.430+189T>C
ENST00000268296.8:c.430+189T>C ENSP00000268296.4:n.430+189T>C
ENST00000562522.2:c.430+189T>C ENSP00000454623.1:n.430+189T>C
ENST00000562918.5:c.538T>C ENSP00000483860.1:p.Phe180Leu
ENST00000567409.1:n.837T>C
NM_000887.4:c.430+189T>C NP_000878.2:n.430+189T>C
NM_001286375.1:c.430+189T>C NP_001273304.1:n.430+189T>C
XM_011545852.1:c.430+189T>C XP_011544154.1:n.430+189T>C
XM_011545853.1:c.430+189T>C XP_011544155.1:n.430+189T>C
XM_011545854.1:c.430+189T>C XP_011544156.1:n.430+189T>C
XR_950797.1:n.518+189T>C
XR_950797.2:n.518+189T>C
NM_000887.5:c.430+189T>C MANE Select NP_000878.2:n.430+189T>C
NM_001286375.2:c.430+189T>C NP_001273304.1:n.430+189T>C
Search 100 bp 5'
Search 100 bp 3'