Canonical Allele Identifier: CA860463890

Gene: ASS1

Linked Data

• dbSNP Id: rs1272973805
• gnomAD v3: 9-130489523-A-G
• gnomAD v4: 9-130489523-A-G
• MyVariant Identifiers: chr9:g.133364910A>G (hg19) ; chr9:g.130489523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489523A>G , CM000671.2:g.130489523A>G	GRCh38
NC_000009.11:g.133364910A>G , CM000671.1:g.133364910A>G	GRCh37
NC_000009.10:g.132354731A>G	NCBI36
NG_011542.1:g.49817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+59A>G MANE Select	ENSP00000253004.6:n.970+59A>G
ENST00000352480.9:c.970+59A>G	ENSP00000253004.6:n.970+59A>G
ENST00000372386.6:n.241+59A>G
ENST00000372393.7:c.970+59A>G	ENSP00000361469.2:n.970+59A>G
ENST00000372394.5:c.970+59A>G	ENSP00000361471.1:n.970+59A>G
NM_000050.4:c.970+59A>G	NP_000041.2:n.970+59A>G
NM_054012.3:c.970+59A>G	NP_446464.1:n.970+59A>G
XM_005272200.2:c.970+59A>G	XP_005272257.1:n.970+59A>G
XM_011518705.1:c.1084+59A>G	XP_011517007.1:n.1084+59A>G
XM_005272200.3:c.970+59A>G	XP_005272257.1:n.970+59A>G
XM_011518705.2:c.1084+59A>G	XP_011517007.1:n.1084+59A>G
XM_017014729.1:c.1066+59A>G	XP_016870218.1:n.1066+59A>G
NM_054012.4:c.970+59A>G MANE Select	NP_446464.1:n.970+59A>G