Canonical Allele Identifier: CA3120601263
Community Standard Title: NM_080874.4(ASB5):c.276+399A=
Gene: ASB5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.176224863T= , CM000666.2:g.176224863T= GRCh38
NC_000004.11:g.177146014T= , CM000666.1:g.177146014T= GRCh37
NC_000004.10:g.177383008T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_080874.4:c.276+399A= MANE Select NP_543150.1:n.276+399A=
ENST00000296525.7:c.276+399A= MANE Select ENSP00000296525.3:n.276+399A=
NM_080874.3:c.276+399A= NP_543150.1:n.276+399A=
ENST00000511879.1:n.361+399A=
ENST00000512254.1:c.117+399A= ENSP00000422877.1:n.117+399A=
ENST00000672074.1:c.141+399A= ENSP00000500617.1:n.141+399A=
XM_005262759.1:c.276+399A= XP_005262816.1:n.276+399A=
XM_011531616.1:c.141+399A= XP_011529918.1:n.141+399A=
XM_011531616.2:c.141+399A= XP_011529918.1:n.141+399A=
XM_011531617.1:c.117+399A= XP_011529919.1:n.117+399A=
XM_011531617.3:c.117+399A= XP_011529919.1:n.117+399A=