Canonical Allele Identifier: CA5283559

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1593488
• ClinVar RCV Id: RCV002122490
• dbSNP Id: rs766187530
• ExAC: 9:133364714 G / C
• gnomAD v2: 9-133364714-G-C
• gnomAD v4: 9-130489327-G-C
• MyVariant Identifiers: chr9:g.133364714G>C (hg19) ; chr9:g.130489327G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489327G>C , CM000671.2:g.130489327G>C	GRCh38
NC_000009.11:g.133364714G>C , CM000671.1:g.133364714G>C	GRCh37
NC_000009.10:g.132354535G>C	NCBI36
NG_011542.1:g.49621G>C

Transcript Alleles

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