Canonical Allele Identifier: CA375227280

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133346275A>G (hg19) ; chr9:g.130470888A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130470888A>G , CM000671.2:g.130470888A>G	GRCh38
NC_000009.11:g.133346275A>G , CM000671.1:g.133346275A>G	GRCh37
NC_000009.10:g.132336096A>G	NCBI36
NG_011542.1:g.31182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.550A>G MANE Select	ENSP00000253004.6:p.Asn184Asp
ENST00000352480.9:c.550A>G	ENSP00000253004.6:p.Asn184Asp
ENST00000372393.7:c.550A>G	ENSP00000361469.2:p.Asn184Asp
ENST00000372394.5:c.550A>G	ENSP00000361471.1:p.Asn184Asp
ENST00000422569.5:c.550A>G	ENSP00000394212.1:p.Asn184Asp
ENST00000443588.1:c.493A>G	ENSP00000397785.1:p.Asn165Asp
ENST00000467695.5:n.259A>G
ENST00000493984.6:n.381A>G
NM_000050.4:c.550A>G	NP_000041.2:p.Asn184Asp
NM_054012.3:c.550A>G	NP_446464.1:p.Asn184Asp
XM_005272200.2:c.550A>G	XP_005272257.1:p.Asn184Asp
XM_011518705.1:c.664A>G	XP_011517007.1:p.Asn222Asp
XM_005272200.3:c.550A>G	XP_005272257.1:p.Asn184Asp
XM_011518705.2:c.664A>G	XP_011517007.1:p.Asn222Asp
XM_017014729.1:c.646A>G	XP_016870218.1:p.Asn216Asp
NM_054012.4:c.550A>G MANE Select	NP_446464.1:p.Asn184Asp