Canonical Allele Identifier: CA375223469

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1024793
• ClinVar RCV Id: RCV001325018
• dbSNP Id: rs1845344324
• MyVariant Identifiers: chr9:g.133327623G>A (hg19) ; chr9:g.130452236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452236G>A , CM000671.2:g.130452236G>A	GRCh38
NC_000009.11:g.133327623G>A , CM000671.1:g.133327623G>A	GRCh37
NC_000009.10:g.132317444G>A	NCBI36
NG_011542.1:g.12530G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.8G>A MANE Select	ENSP00000253004.6:p.Ser3Asn
ENST00000352480.9:c.8G>A	ENSP00000253004.6:p.Ser3Asn
ENST00000372393.7:c.8G>A	ENSP00000361469.2:p.Ser3Asn
ENST00000372394.5:c.8G>A	ENSP00000361471.1:p.Ser3Asn
ENST00000422569.5:c.8G>A	ENSP00000394212.1:p.Ser3Asn
ENST00000443588.1:c.8G>A	ENSP00000397785.1:p.Ser3Asn
NM_000050.4:c.8G>A	NP_000041.2:p.Ser3Asn
NM_054012.3:c.8G>A	NP_446464.1:p.Ser3Asn
XM_005272200.2:c.8G>A	XP_005272257.1:p.Ser3Asn
XM_011518705.1:c.122G>A	XP_011517007.1:p.Ser41Asn
XM_005272200.3:c.8G>A	XP_005272257.1:p.Ser3Asn
XM_011518705.2:c.122G>A	XP_011517007.1:p.Ser41Asn
XM_017014729.1:c.104G>A	XP_016870218.1:p.Ser35Asn
NM_054012.4:c.8G>A MANE Select	NP_446464.1:p.Ser3Asn