Canonical Allele Identifier: CA273943

Gene: ASS1

Linked Data

• ClinVar Variation Id: 188776
• ClinVar RCV Id: RCV000169103 ; RCV001850390
• dbSNP Id: rs786204460
• MyVariant Identifiers: chr9:g.133374902C>T (hg19) ; chr9:g.130499515C>T (hg38)
• PubMed: PMID:11738042 ; PMID:12815590 ; PMID:19006241

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130499515C>T , CM000671.2:g.130499515C>T	GRCh38
NC_000009.11:g.133374902C>T , CM000671.1:g.133374902C>T	GRCh37
NC_000009.10:g.132364723C>T	NCBI36
NG_011542.1:g.59809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.1138C>T MANE Select	ENSP00000253004.6:p.Gln380Ter
ENST00000352480.9:c.1138C>T	ENSP00000253004.6:p.Gln380Ter
ENST00000372386.6:n.409C>T
ENST00000372393.7:c.1138C>T	ENSP00000361469.2:p.Gln380Ter
ENST00000372394.5:c.1138C>T	ENSP00000361471.1:p.Gln380Ter
NM_000050.4:c.1138C>T	NP_000041.2:p.Gln380Ter
NM_054012.3:c.1138C>T	NP_446464.1:p.Gln380Ter
XM_005272200.2:c.1138C>T	XP_005272257.1:p.Gln380Ter
XM_011518705.1:c.1252C>T	XP_011517007.1:p.Gln418Ter
XR_930393.1:n.1059+432G>A
XM_005272200.3:c.1138C>T	XP_005272257.1:p.Gln380Ter
XM_011518705.2:c.1252C>T	XP_011517007.1:p.Gln418Ter
XM_017014729.1:c.1234C>T	XP_016870218.1:p.Gln412Ter
XR_930393.2:n.1101+432G>A
NM_054012.4:c.1138C>T MANE Select	NP_446464.1:p.Gln380Ter