Canonical Allele Identifier: CA5283186

Gene: ASS1

Linked Data

• ClinVar Variation Id: 518136
• ClinVar RCV Id: RCV000601845 ; RCV000665349 ; RCV002066899
• dbSNP Id: rs373936572
• ExAC: 9:133333772 G / T
• gnomAD v2: 9-133333772-G-T
• gnomAD v3: 9-130458385-G-T
• gnomAD v4: 9-130458385-G-T
• MyVariant Identifiers: chr9:g.133333772G>T (hg19) ; chr9:g.130458385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458385G>T , CM000671.2:g.130458385G>T	GRCh38
NC_000009.11:g.133333772G>T , CM000671.1:g.133333772G>T	GRCh37
NC_000009.10:g.132323593G>T	NCBI36
NG_011542.1:g.18679G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.175-16G>T MANE Select	ENSP00000253004.6:n.175-16G>T
ENST00000352480.9:c.175-16G>T	ENSP00000253004.6:n.175-16G>T
ENST00000372393.7:c.175-16G>T	ENSP00000361469.2:n.175-16G>T
ENST00000372394.5:c.175-16G>T	ENSP00000361471.1:n.175-16G>T
ENST00000422569.5:c.175-16G>T	ENSP00000394212.1:n.175-16G>T
ENST00000443588.1:c.175-16G>T	ENSP00000397785.1:n.175-16G>T
NM_000050.4:c.175-16G>T	NP_000041.2:n.175-16G>T
NM_054012.3:c.175-16G>T	NP_446464.1:n.175-16G>T
XM_005272200.2:c.175-16G>T	XP_005272257.1:n.175-16G>T
XM_011518705.1:c.289-16G>T	XP_011517007.1:n.289-16G>T
XM_005272200.3:c.175-16G>T	XP_005272257.1:n.175-16G>T
XM_011518705.2:c.289-16G>T	XP_011517007.1:n.289-16G>T
XM_017014729.1:c.271-16G>T	XP_016870218.1:n.271-16G>T
NM_054012.4:c.175-16G>T MANE Select	NP_446464.1:n.175-16G>T