Canonical Allele Identifier: CA2580586562
Community Standard Title: NM_000885.6(ITGA4):c.319+5170G>T
Gene: ITGA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181463487G>T , CM000664.2:g.181463487G>T GRCh38
NC_000002.11:g.182328214G>T , CM000664.1:g.182328214G>T GRCh37
NC_000002.10:g.182036459G>T NCBI36
NG_050623.1:g.11596G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000885.6:c.319+5170G>T MANE Select NP_000876.3:n.319+5170G>T
ENST00000397033.7:c.319+5170G>T MANE Select ENSP00000380227.2:n.319+5170G>T
NM_000885.4:c.319+5170G>T NP_000876.3:n.319+5170G>T
NM_000885.5:c.319+5170G>T NP_000876.3:n.319+5170G>T
NM_001316312.1:c.319+5170G>T NP_001303241.1:n.319+5170G>T
NM_001316312.2:c.319+5170G>T NP_001303241.1:n.319+5170G>T
ENST00000233573.6:c.319+5170G>T ENSP00000233573.6:n.319+5170G>T
ENST00000339307.8:c.319+5170G>T ENSP00000340149.4:n.319+5170G>T
ENST00000397033.6:c.319+5170G>T ENSP00000380227.2:n.319+5170G>T
ENST00000465522.5:n.570+5170G>T
ENST00000478440.1:n.77+5170G>T
ENST00000484404.1:n.261+5170G>T