Canonical Allele Identifier: CA5283595

Gene: ASS1

Linked Data

• dbSNP Id: rs369830305
• ExAC: 9:133364884 C / A
• gnomAD v2: 9-133364884-C-A
• gnomAD v3: 9-130489497-C-A
• gnomAD v4: 9-130489497-C-A
• MyVariant Identifiers: chr9:g.133364884C>A (hg19) ; chr9:g.130489497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489497C>A , CM000671.2:g.130489497C>A	GRCh38
NC_000009.11:g.133364884C>A , CM000671.1:g.133364884C>A	GRCh37
NC_000009.10:g.132354705C>A	NCBI36
NG_011542.1:g.49791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+33C>A MANE Select	ENSP00000253004.6:n.970+33C>A
ENST00000352480.9:c.970+33C>A	ENSP00000253004.6:n.970+33C>A
ENST00000372386.6:n.241+33C>A
ENST00000372393.7:c.970+33C>A	ENSP00000361469.2:n.970+33C>A
ENST00000372394.5:c.970+33C>A	ENSP00000361471.1:n.970+33C>A
NM_000050.4:c.970+33C>A	NP_000041.2:n.970+33C>A
NM_054012.3:c.970+33C>A	NP_446464.1:n.970+33C>A
XM_005272200.2:c.970+33C>A	XP_005272257.1:n.970+33C>A
XM_011518705.1:c.1084+33C>A	XP_011517007.1:n.1084+33C>A
XM_005272200.3:c.970+33C>A	XP_005272257.1:n.970+33C>A
XM_011518705.2:c.1084+33C>A	XP_011517007.1:n.1084+33C>A
XM_017014729.1:c.1066+33C>A	XP_016870218.1:n.1066+33C>A
NM_054012.4:c.970+33C>A MANE Select	NP_446464.1:n.970+33C>A