Canonical Allele Identifier: CA1881279126
Community Standard Title: NM_054012.4(ASS1):c.1030C= (p.Arg344=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130494926C= , CM000671.2:g.130494926C= GRCh38
NC_000009.11:g.133370313C= , CM000671.1:g.133370313C= GRCh37
NC_000009.10:g.132360134C= NCBI36
NG_011542.1:g.55220C=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.1030C= MANE Select NP_446464.1:p.Arg344=
ENST00000352480.10:c.1030C= MANE Select ENSP00000253004.6:p.Arg344=
NM_000050.4:c.1030C= NP_000041.2:p.Arg344=
NM_054012.3:c.1030C= NP_446464.1:p.Arg344=
ENST00000352480.9:c.1030C= ENSP00000253004.6:p.Arg344=
ENST00000372386.6:n.301C=
ENST00000372393.7:c.1030C= ENSP00000361469.2:p.Arg344=
ENST00000372394.5:c.1030C= ENSP00000361471.1:p.Arg344=
XM_005272200.2:c.1030C= XP_005272257.1:p.Arg344=
XM_005272200.3:c.1030C= XP_005272257.1:p.Arg344=
XM_011518705.1:c.1144C= XP_011517007.1:p.Arg382=
XM_011518705.2:c.1144C= XP_011517007.1:p.Arg382=
XM_017014729.1:c.1126C= XP_016870218.1:p.Arg376=
XR_930393.1:n.1060-2669G=
XR_930393.2:n.1102-2669G=