Canonical Allele Identifier: CA1881276655
Community Standard Title: NM_054012.4(ASS1):c.928A= (p.Lys310=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489422A= , CM000671.2:g.130489422A= GRCh38
NC_000009.11:g.133364809A= , CM000671.1:g.133364809A= GRCh37
NC_000009.10:g.132354630A= NCBI36
NG_011542.1:g.49716A=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.928A= MANE Select NP_446464.1:p.Lys310=
ENST00000352480.10:c.928A= MANE Select ENSP00000253004.6:p.Lys310=
NM_000050.4:c.928A= NP_000041.2:p.Lys310=
NM_054012.3:c.928A= NP_446464.1:p.Lys310=
ENST00000352480.9:c.928A= ENSP00000253004.6:p.Lys310=
ENST00000372386.6:n.199A=
ENST00000372393.7:c.928A= ENSP00000361469.2:p.Lys310=
ENST00000372394.5:c.928A= ENSP00000361471.1:p.Lys310=
ENST00000492400.5:n.437A=
XM_005272200.2:c.928A= XP_005272257.1:p.Lys310=
XM_005272200.3:c.928A= XP_005272257.1:p.Lys310=
XM_011518705.1:c.1042A= XP_011517007.1:p.Lys348=
XM_011518705.2:c.1042A= XP_011517007.1:p.Lys348=
XM_017014729.1:c.1024A= XP_016870218.1:p.Lys342=