Canonical Allele Identifier: CA1881253924
Community Standard Title: NM_054012.4(ASS1):c.421-2A=
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130466723A= , CM000671.2:g.130466723A= GRCh38
NC_000009.11:g.133342110A= , CM000671.1:g.133342110A= GRCh37
NC_000009.10:g.132331931A= NCBI36
NG_011542.1:g.27017A=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.421-2A= MANE Select NP_446464.1:n.421-2A=
ENST00000352480.10:c.421-2A= MANE Select ENSP00000253004.6:n.421-2A=
NM_000050.4:c.421-2A= NP_000041.2:n.421-2A=
NM_054012.3:c.421-2A= NP_446464.1:n.421-2A=
ENST00000352480.9:c.421-2A= ENSP00000253004.6:n.421-2A=
ENST00000372393.7:c.421-2A= ENSP00000361469.2:n.421-2A=
ENST00000372394.5:c.421-2A= ENSP00000361471.1:n.421-2A=
ENST00000422569.5:c.421-2A= ENSP00000394212.1:n.421-2A=
ENST00000443588.1:c.364-2A= ENSP00000397785.1:n.364-2A=
ENST00000467695.5:n.130-2A=
ENST00000493984.6:n.250A=
XM_005272200.2:c.421-2A= XP_005272257.1:n.421-2A=
XM_005272200.3:c.421-2A= XP_005272257.1:n.421-2A=
XM_011518705.1:c.535-2A= XP_011517007.1:n.535-2A=
XM_011518705.2:c.535-2A= XP_011517007.1:n.535-2A=
XM_017014729.1:c.517-2A= XP_016870218.1:n.517-2A=