Canonical Allele Identifier: CA375230475

Gene: ASS1

Linked Data

• dbSNP Id: rs1313489293
• gnomAD v2: 9-133364735-C-A
• gnomAD v3: 9-130489348-C-A
• gnomAD v4: 9-130489348-C-A
• MyVariant Identifiers: chr9:g.133364735C>A (hg19) ; chr9:g.130489348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489348C>A , CM000671.2:g.130489348C>A	GRCh38
NC_000009.11:g.133364735C>A , CM000671.1:g.133364735C>A	GRCh37
NC_000009.10:g.132354556C>A	NCBI36
NG_011542.1:g.49642C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.854C>A MANE Select	ENSP00000253004.6:p.Pro285Gln
ENST00000352480.9:c.854C>A	ENSP00000253004.6:p.Pro285Gln
ENST00000372386.6:n.125C>A
ENST00000372393.7:c.854C>A	ENSP00000361469.2:p.Pro285Gln
ENST00000372394.5:c.854C>A	ENSP00000361471.1:p.Pro285Gln
ENST00000470849.4:n.579C>A
ENST00000492400.5:n.363C>A
ENST00000493984.6:n.631C>A
NM_000050.4:c.854C>A	NP_000041.2:p.Pro285Gln
NM_054012.3:c.854C>A	NP_446464.1:p.Pro285Gln
XM_005272200.2:c.854C>A	XP_005272257.1:p.Pro285Gln
XM_011518705.1:c.968C>A	XP_011517007.1:p.Pro323Gln
XM_005272200.3:c.854C>A	XP_005272257.1:p.Pro285Gln
XM_011518705.2:c.968C>A	XP_011517007.1:p.Pro323Gln
XM_017014729.1:c.950C>A	XP_016870218.1:p.Pro317Gln
NM_054012.4:c.854C>A MANE Select	NP_446464.1:p.Pro285Gln