Canonical Allele Identifier: CA375230440

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2679031
• ClinVar RCV Id: RCV003474045
• MyVariant Identifiers: chr9:g.133364719G>A (hg19) ; chr9:g.130489332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489332G>A , CM000671.2:g.130489332G>A	GRCh38
NC_000009.11:g.133364719G>A , CM000671.1:g.133364719G>A	GRCh37
NC_000009.10:g.132354540G>A	NCBI36
NG_011542.1:g.49626G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.839-1G>A MANE Select	ENSP00000253004.6:n.839-1G>A
ENST00000352480.9:c.839-1G>A	ENSP00000253004.6:n.839-1G>A
ENST00000372386.6:n.110-1G>A
ENST00000372393.7:c.839-1G>A	ENSP00000361469.2:n.839-1G>A
ENST00000372394.5:c.839-1G>A	ENSP00000361471.1:n.839-1G>A
ENST00000470849.4:n.564-1G>A
ENST00000492400.5:n.348-1G>A
ENST00000493984.6:n.616-1G>A
NM_000050.4:c.839-1G>A	NP_000041.2:n.839-1G>A
NM_054012.3:c.839-1G>A	NP_446464.1:n.839-1G>A
XM_005272200.2:c.839-1G>A	XP_005272257.1:n.839-1G>A
XM_011518705.1:c.953-1G>A	XP_011517007.1:n.953-1G>A
XM_005272200.3:c.839-1G>A	XP_005272257.1:n.839-1G>A
XM_011518705.2:c.953-1G>A	XP_011517007.1:n.953-1G>A
XM_017014729.1:c.935-1G>A	XP_016870218.1:n.935-1G>A
NM_054012.4:c.839-1G>A MANE Select	NP_446464.1:n.839-1G>A