Canonical Allele Identifier: CA253831

Gene: ASS1

Linked Data

• ClinVar Variation Id: 6326
• ClinVar RCV Id: RCV000006698 ; RCV000185782 ; RCV001376618
• dbSNP Id: rs121908638
• ExAC: 9:133346264 G / A
• gnomAD v2: 9-133346264-G-A
• gnomAD v3: 9-130470877-G-A
• gnomAD v4: 9-130470877-G-A
• MyVariant Identifiers: chr9:g.133346264G>A (hg19) ; chr9:g.130470877G>A (hg38)
• PubMed: PMID:2358466 ; PMID:18925679 ; PMID:24765495 ; PMID:24772957 ; PMID:27287393

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130470877G>A , CM000671.2:g.130470877G>A	GRCh38
NC_000009.11:g.133346264G>A , CM000671.1:g.133346264G>A	GRCh37
NC_000009.10:g.132336085G>A	NCBI36
NG_011542.1:g.31171G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.539G>A MANE Select	ENSP00000253004.6:p.Ser180Asn
ENST00000352480.9:c.539G>A	ENSP00000253004.6:p.Ser180Asn
ENST00000372393.7:c.539G>A	ENSP00000361469.2:p.Ser180Asn
ENST00000372394.5:c.539G>A	ENSP00000361471.1:p.Ser180Asn
ENST00000422569.5:c.539G>A	ENSP00000394212.1:p.Ser180Asn
ENST00000443588.1:c.482G>A	ENSP00000397785.1:p.Ser161Asn
ENST00000467695.5:n.248G>A
ENST00000493984.6:n.370G>A
NM_000050.4:c.539G>A	NP_000041.2:p.Ser180Asn
NM_054012.3:c.539G>A	NP_446464.1:p.Ser180Asn
XM_005272200.2:c.539G>A	XP_005272257.1:p.Ser180Asn
XM_011518705.1:c.653G>A	XP_011517007.1:p.Ser218Asn
XM_005272200.3:c.539G>A	XP_005272257.1:p.Ser180Asn
XM_011518705.2:c.653G>A	XP_011517007.1:p.Ser218Asn
XM_017014729.1:c.635G>A	XP_016870218.1:p.Ser212Asn
NM_054012.4:c.539G>A MANE Select	NP_446464.1:p.Ser180Asn