Canonical Allele Identifier: CA467384914
Gene: ASS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133355802C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480415C>A , CM000671.2:g.130480415C>A GRCh38
NC_000009.11:g.133355802C>A , CM000671.1:g.133355802C>A GRCh37
NC_000009.10:g.132345623C>A NCBI36
NG_011542.1:g.40709C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.804C>A MANE Select ENSP00000253004.6:p.Ile268=
ENST00000352480.9:c.804C>A ENSP00000253004.6:p.Ile268=
ENST00000372386.6:n.75C>A
ENST00000372393.7:c.804C>A ENSP00000361469.2:p.Ile268=
ENST00000372394.5:c.804C>A ENSP00000361471.1:p.Ile268=
ENST00000470849.4:n.529C>A
ENST00000492400.5:n.313C>A
ENST00000493984.6:n.581C>A
NM_000050.4:c.804C>A NP_000041.2:p.Ile268=
NM_054012.3:c.804C>A NP_446464.1:p.Ile268=
XM_005272200.2:c.804C>A XP_005272257.1:p.Ile268=
XM_011518705.1:c.918C>A XP_011517007.1:p.Ile306=
XM_005272200.3:c.804C>A XP_005272257.1:p.Ile268=
XM_011518705.2:c.918C>A XP_011517007.1:p.Ile306=
XM_017014729.1:c.900C>A XP_016870218.1:p.Ile300=
NM_054012.4:c.804C>A MANE Select NP_446464.1:p.Ile268=