Canonical Allele Identifier: CA1881279174
Community Standard Title: NM_054012.4(ASS1):c.1127+1G=
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130495024G= , CM000671.2:g.130495024G= GRCh38
NC_000009.11:g.133370411G= , CM000671.1:g.133370411G= GRCh37
NC_000009.10:g.132360232G= NCBI36
NG_011542.1:g.55318G=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.1127+1G= MANE Select NP_446464.1:n.1127+1G=
ENST00000352480.10:c.1127+1G= MANE Select ENSP00000253004.6:n.1127+1G=
NM_000050.4:c.1127+1G= NP_000041.2:n.1127+1G=
NM_054012.3:c.1127+1G= NP_446464.1:n.1127+1G=
ENST00000352480.9:c.1127+1G= ENSP00000253004.6:n.1127+1G=
ENST00000372386.6:n.398+1G=
ENST00000372393.7:c.1127+1G= ENSP00000361469.2:n.1127+1G=
ENST00000372394.5:c.1127+1G= ENSP00000361471.1:n.1127+1G=
XM_005272200.2:c.1127+1G= XP_005272257.1:n.1127+1G=
XM_005272200.3:c.1127+1G= XP_005272257.1:n.1127+1G=
XM_011518705.1:c.1241+1G= XP_011517007.1:n.1241+1G=
XM_011518705.2:c.1241+1G= XP_011517007.1:n.1241+1G=
XM_017014729.1:c.1223+1G= XP_016870218.1:n.1223+1G=
XR_930393.1:n.1060-2767C=
XR_930393.2:n.1102-2767C=