Canonical Allele Identifier: CA253832

Gene: ASS1

Linked Data

• ClinVar Variation Id: 6327
• ClinVar RCV Id: RCV000006699 ; RCV001531743 ; RCV001376631 ; RCV003934804
• dbSNP Id: rs121908639
• ExAC: 9:133364851 G / A
• gnomAD v2: 9-133364851-G-A
• gnomAD v3: 9-130489464-G-A
• gnomAD v4: 9-130489464-G-A
• COSMIC: COSM6457442 ; COSM6457443
• MyVariant Identifiers: chr9:g.133364851G>A (hg19) ; chr9:g.130489464G>A (hg38)
• PubMed: PMID:2358466 ; PMID:10987146 ; PMID:12815590 ; PMID:14680976 ; PMID:16475226 ; PMID:18473344

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489464G>A , CM000671.2:g.130489464G>A	GRCh38
NC_000009.11:g.133364851G>A , CM000671.1:g.133364851G>A	GRCh37
NC_000009.10:g.132354672G>A	NCBI36
NG_011542.1:g.49758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970G>A MANE Select	ENSP00000253004.6:p.Gly324Ser
ENST00000352480.9:c.970G>A	ENSP00000253004.6:p.Gly324Ser
ENST00000372386.6:n.241G>A
ENST00000372393.7:c.970G>A	ENSP00000361469.2:p.Gly324Ser
ENST00000372394.5:c.970G>A	ENSP00000361471.1:p.Gly324Ser
NM_000050.4:c.970G>A	NP_000041.2:p.Gly324Ser
NM_054012.3:c.970G>A	NP_446464.1:p.Gly324Ser
XM_005272200.2:c.970G>A	XP_005272257.1:p.Gly324Ser
XM_011518705.1:c.1084G>A	XP_011517007.1:p.Gly362Ser
XM_005272200.3:c.970G>A	XP_005272257.1:p.Gly324Ser
XM_011518705.2:c.1084G>A	XP_011517007.1:p.Gly362Ser
XM_017014729.1:c.1066G>A	XP_016870218.1:p.Gly356Ser
NM_054012.4:c.970G>A MANE Select	NP_446464.1:p.Gly324Ser