Canonical Allele Identifier: CA8641410
Community Standard Title: NM_002204.4(ITGA3):c.1047G>A (p.Ala349=)
Gene: ITGA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50072073G>A , CM000679.2:g.50072073G>A GRCh38
NC_000017.10:g.48149437G>A , CM000679.1:g.48149437G>A GRCh37
NC_000017.9:g.45504436G>A NCBI36
NG_029107.2:g.21098G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002204.4:c.1047G>A MANE Select NP_002195.1:p.Ala349=
ENST00000320031.13:c.1047G>A MANE Select ENSP00000315190.8:p.Ala349=
NM_002204.2:c.1047G>A NP_002195.1:p.Ala349=
NM_002204.3:c.1047G>A NP_002195.1:p.Ala349=
NM_005501.2:c.1047G>A NP_005492.1:p.Ala349=
ENST00000007722.11:c.1047G>A ENSP00000007722.7:p.Ala349=
ENST00000320031.12:c.1047G>A ENSP00000315190.8:p.Ala349=
ENST00000505306.5:n.1419G>A
ENST00000505552.1:n.334G>A
ENST00000506401.6:c.*368G>A ENSP00000422826.2:n.*368G>A
ENST00000512553.5:c.58+1143G>A ENSP00000466652.1:n.58+1143G>A
XM_005257308.1:c.751+1143G>A XP_005257365.1:n.751+1143G>A
XM_005257308.2:c.751+1143G>A XP_005257365.1:n.751+1143G>A
XR_001752507.1:n.1422G>A