Canonical Allele Identifier: CA273302

Gene: ASS1

Linked Data

• ClinVar Variation Id: 166704
• ClinVar RCV Id: RCV000152808 ; RCV000723939 ; RCV001376639
• dbSNP Id: rs727503814
• ExAC: 9:133376362 G / C
• gnomAD v2: 9-133376362-G-C
• gnomAD v3: 9-130500975-G-C
• gnomAD v4: 9-130500975-G-C
• MyVariant Identifiers: chr9:g.133376362G>C (hg19) ; chr9:g.130500975G>C (hg38)
• PubMed: PMID:2246255 ; PMID:2358466 ; PMID:12815590 ; PMID:15266621 ; PMID:15334737 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130500975G>C , CM000671.2:g.130500975G>C	GRCh38
NC_000009.11:g.133376362G>C , CM000671.1:g.133376362G>C	GRCh37
NC_000009.10:g.132366183G>C	NCBI36
NG_011542.1:g.61269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.1194-1G>C MANE Select	ENSP00000253004.6:n.1194-1G>C
ENST00000352480.9:c.1194-1G>C	ENSP00000253004.6:n.1194-1G>C
ENST00000372386.6:n.465-1G>C
ENST00000372393.7:c.1194-1G>C	ENSP00000361469.2:n.1194-1G>C
ENST00000372394.5:c.1194-1G>C	ENSP00000361471.1:n.1194-1G>C
NM_000050.4:c.1194-1G>C	NP_000041.2:n.1194-1G>C
NM_054012.3:c.1194-1G>C	NP_446464.1:n.1194-1G>C
XM_005272200.2:c.1194-1G>C	XP_005272257.1:n.1194-1G>C
XM_011518705.1:c.1308-1G>C	XP_011517007.1:n.1308-1G>C
XR_930393.1:n.892+684C>G
XM_005272200.3:c.1194-1G>C	XP_005272257.1:n.1194-1G>C
XM_011518705.2:c.1308-1G>C	XP_011517007.1:n.1308-1G>C
XM_017014729.1:c.1290-1G>C	XP_016870218.1:n.1290-1G>C
XR_930393.2:n.934+684C>G
NM_054012.4:c.1194-1G>C MANE Select	NP_446464.1:n.1194-1G>C