Canonical Allele Identifier: CA220300

Gene: ASS1

Linked Data

• ClinVar Variation Id: 92378
• ClinVar RCV Id: RCV000078030 ; RCV003114241
• dbSNP Id: rs398123132
• MyVariant Identifiers: chr9:g.133364795A>T (hg19) ; chr9:g.130489408A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489408A>T , CM000671.2:g.130489408A>T	GRCh38
NC_000009.11:g.133364795A>T , CM000671.1:g.133364795A>T	GRCh37
NC_000009.10:g.132354616A>T	NCBI36
NG_011542.1:g.49702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.914A>T MANE Select	ENSP00000253004.6:p.Glu305Val
ENST00000352480.9:c.914A>T	ENSP00000253004.6:p.Glu305Val
ENST00000372386.6:n.185A>T
ENST00000372393.7:c.914A>T	ENSP00000361469.2:p.Glu305Val
ENST00000372394.5:c.914A>T	ENSP00000361471.1:p.Glu305Val
ENST00000470849.4:n.639A>T
ENST00000492400.5:n.423A>T
NM_000050.4:c.914A>T	NP_000041.2:p.Glu305Val
NM_054012.3:c.914A>T	NP_446464.1:p.Glu305Val
XM_005272200.2:c.914A>T	XP_005272257.1:p.Glu305Val
XM_011518705.1:c.1028A>T	XP_011517007.1:p.Glu343Val
XM_005272200.3:c.914A>T	XP_005272257.1:p.Glu305Val
XM_011518705.2:c.1028A>T	XP_011517007.1:p.Glu343Val
XM_017014729.1:c.1010A>T	XP_016870218.1:p.Glu337Val
NM_054012.4:c.914A>T MANE Select	NP_446464.1:p.Glu305Val