Canonical Allele Identifier: CA375230874

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2581414
• ClinVar RCV Id: RCV003331819
• dbSNP Id: rs1250895424
• gnomAD v2: 9-133364849-C-T
• gnomAD v4: 9-130489462-C-T
• MyVariant Identifiers: chr9:g.133364849C>T (hg19) ; chr9:g.130489462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489462C>T , CM000671.2:g.130489462C>T	GRCh38
NC_000009.11:g.133364849C>T , CM000671.1:g.133364849C>T	GRCh37
NC_000009.10:g.132354670C>T	NCBI36
NG_011542.1:g.49756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.968C>T MANE Select	ENSP00000253004.6:p.Thr323Ile
ENST00000352480.9:c.968C>T	ENSP00000253004.6:p.Thr323Ile
ENST00000372386.6:n.239C>T
ENST00000372393.7:c.968C>T	ENSP00000361469.2:p.Thr323Ile
ENST00000372394.5:c.968C>T	ENSP00000361471.1:p.Thr323Ile
NM_000050.4:c.968C>T	NP_000041.2:p.Thr323Ile
NM_054012.3:c.968C>T	NP_446464.1:p.Thr323Ile
XM_005272200.2:c.968C>T	XP_005272257.1:p.Thr323Ile
XM_011518705.1:c.1082C>T	XP_011517007.1:p.Thr361Ile
XM_005272200.3:c.968C>T	XP_005272257.1:p.Thr323Ile
XM_011518705.2:c.1082C>T	XP_011517007.1:p.Thr361Ile
XM_017014729.1:c.1064C>T	XP_016870218.1:p.Thr355Ile
NM_054012.4:c.968C>T MANE Select	NP_446464.1:p.Thr323Ile