Canonical Allele Identifier: CA375230470

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489347-C-A
• MyVariant Identifiers: chr9:g.133364734C>A (hg19) ; chr9:g.130489347C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489347C>A , CM000671.2:g.130489347C>A	GRCh38
NC_000009.11:g.133364734C>A , CM000671.1:g.133364734C>A	GRCh37
NC_000009.10:g.132354555C>A	NCBI36
NG_011542.1:g.49641C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.853C>A MANE Select	ENSP00000253004.6:p.Pro285Thr
ENST00000352480.9:c.853C>A	ENSP00000253004.6:p.Pro285Thr
ENST00000372386.6:n.124C>A
ENST00000372393.7:c.853C>A	ENSP00000361469.2:p.Pro285Thr
ENST00000372394.5:c.853C>A	ENSP00000361471.1:p.Pro285Thr
ENST00000470849.4:n.578C>A
ENST00000492400.5:n.362C>A
ENST00000493984.6:n.630C>A
NM_000050.4:c.853C>A	NP_000041.2:p.Pro285Thr
NM_054012.3:c.853C>A	NP_446464.1:p.Pro285Thr
XM_005272200.2:c.853C>A	XP_005272257.1:p.Pro285Thr
XM_011518705.1:c.967C>A	XP_011517007.1:p.Pro323Thr
XM_005272200.3:c.853C>A	XP_005272257.1:p.Pro285Thr
XM_011518705.2:c.967C>A	XP_011517007.1:p.Pro323Thr
XM_017014729.1:c.949C>A	XP_016870218.1:p.Pro317Thr
NM_054012.4:c.853C>A MANE Select	NP_446464.1:p.Pro285Thr