Canonical Allele Identifier: CA8642194
Community Standard Title: NM_002204.4(ITGA3):c.*48G>A
Gene: ITGA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50089126G>A , CM000679.2:g.50089126G>A GRCh38
NC_000017.10:g.48166490G>A , CM000679.1:g.48166490G>A GRCh37
NC_000017.9:g.45521489G>A NCBI36
NG_029107.2:g.38151G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002204.4:c.*48G>A MANE Select NP_002195.1:n.*48G>A
ENST00000320031.13:c.*48G>A MANE Select ENSP00000315190.8:n.*48G>A
NM_002204.2:c.*48G>A NP_002195.1:n.*48G>A
NM_002204.3:c.*48G>A NP_002195.1:n.*48G>A
NM_005501.2:c.3062G>A NP_005492.1:p.Arg1021Gln
ENST00000007722.11:c.3062G>A ENSP00000007722.7:p.Arg1021Gln
ENST00000320031.12:c.*48G>A ENSP00000315190.8:n.*48G>A
ENST00000505306.5:n.4125G>A
ENST00000506437.1:n.1700G>A
ENST00000506827.1:c.536-1064G>A
ENST00000514834.1:n.171G>A
XM_005257308.1:c.*48G>A XP_005257365.1:n.*48G>A
XM_005257308.2:c.*48G>A XP_005257365.1:n.*48G>A