Canonical Allele Identifier: CA1881271358
Community Standard Title: NM_054012.4(ASS1):c.773+49C=
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130479849C= , CM000671.2:g.130479849C= GRCh38
NC_000009.11:g.133355236C= , CM000671.1:g.133355236C= GRCh37
NC_000009.10:g.132345057C= NCBI36
NG_011542.1:g.40143C=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.773+49C= MANE Select NP_446464.1:n.773+49C=
ENST00000352480.10:c.773+49C= MANE Select ENSP00000253004.6:n.773+49C=
NM_000050.4:c.773+49C= NP_000041.2:n.773+49C=
NM_054012.3:c.773+49C= NP_446464.1:n.773+49C=
ENST00000352480.9:c.773+49C= ENSP00000253004.6:n.773+49C=
ENST00000372393.7:c.773+49C= ENSP00000361469.2:n.773+49C=
ENST00000372394.5:c.773+49C= ENSP00000361471.1:n.773+49C=
ENST00000467695.5:n.531C=
ENST00000470849.4:n.498+49C=
ENST00000492400.5:n.282+49C=
ENST00000493984.6:n.550+49C=
XM_005272200.2:c.773+49C= XP_005272257.1:n.773+49C=
XM_005272200.3:c.773+49C= XP_005272257.1:n.773+49C=
XM_011518705.1:c.887+49C= XP_011517007.1:n.887+49C=
XM_011518705.2:c.887+49C= XP_011517007.1:n.887+49C=
XM_017014729.1:c.869+49C= XP_016870218.1:n.869+49C=