Canonical Allele Identifier: CA5283558

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2153229
• ClinVar RCV Id: RCV003077507
• dbSNP Id: rs760391509
• ExAC: 9:133364713 T / C
• gnomAD v2: 9-133364713-T-C
• gnomAD v3: 9-130489326-T-C
• gnomAD v4: 9-130489326-T-C
• MyVariant Identifiers: chr9:g.133364713T>C (hg19) ; chr9:g.130489326T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489326T>C , CM000671.2:g.130489326T>C	GRCh38
NC_000009.11:g.133364713T>C , CM000671.1:g.133364713T>C	GRCh37
NC_000009.10:g.132354534T>C	NCBI36
NG_011542.1:g.49620T>C

Transcript Alleles

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