Canonical Allele Identifier: CA467388175

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2732459
• ClinVar RCV Id: RCV003595555
• MyVariant Identifiers: chr9:g.133327675C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452288C>T , CM000671.2:g.130452288C>T	GRCh38
NC_000009.11:g.133327675C>T , CM000671.1:g.133327675C>T	GRCh37
NC_000009.10:g.132317496C>T	NCBI36
NG_011542.1:g.12582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.60C>T MANE Select	ENSP00000253004.6:p.Ile20=
ENST00000352480.9:c.60C>T	ENSP00000253004.6:p.Ile20=
ENST00000372393.7:c.60C>T	ENSP00000361469.2:p.Ile20=
ENST00000372394.5:c.60C>T	ENSP00000361471.1:p.Ile20=
ENST00000422569.5:c.60C>T	ENSP00000394212.1:p.Ile20=
ENST00000443588.1:c.60C>T	ENSP00000397785.1:p.Ile20=
NM_000050.4:c.60C>T	NP_000041.2:p.Ile20=
NM_054012.3:c.60C>T	NP_446464.1:p.Ile20=
XM_005272200.2:c.60C>T	XP_005272257.1:p.Ile20=
XM_011518705.1:c.174C>T	XP_011517007.1:p.Ile58=
XM_005272200.3:c.60C>T	XP_005272257.1:p.Ile20=
XM_011518705.2:c.174C>T	XP_011517007.1:p.Ile58=
XM_017014729.1:c.156C>T	XP_016870218.1:p.Ile52=
NM_054012.4:c.60C>T MANE Select	NP_446464.1:p.Ile20=