Canonical Allele Identifier: CA2692134389

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489219-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489219C>A , CM000671.2:g.130489219C>A	GRCh38
NC_000009.11:g.133364606C>A , CM000671.1:g.133364606C>A	GRCh37
NC_000009.10:g.132354427C>A	NCBI36
NG_011542.1:g.49513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-114C>A MANE Select	ENSP00000253004.6:n.839-114C>A
ENST00000352480.9:c.839-114C>A	ENSP00000253004.6:n.839-114C>A
ENST00000372386.6:n.110-114C>A
ENST00000372393.7:c.839-114C>A	ENSP00000361469.2:n.839-114C>A
ENST00000372394.5:c.839-114C>A	ENSP00000361471.1:n.839-114C>A
ENST00000470849.4:n.564-114C>A
ENST00000492400.5:n.348-114C>A
ENST00000493984.6:n.616-114C>A
NM_000050.4:c.839-114C>A	NP_000041.2:n.839-114C>A
NM_054012.3:c.839-114C>A	NP_446464.1:n.839-114C>A
XM_005272200.2:c.839-114C>A	XP_005272257.1:n.839-114C>A
XM_011518705.1:c.953-114C>A	XP_011517007.1:n.953-114C>A
XM_005272200.3:c.839-114C>A	XP_005272257.1:n.839-114C>A
XM_011518705.2:c.953-114C>A	XP_011517007.1:n.953-114C>A
XM_017014729.1:c.935-114C>A	XP_016870218.1:n.935-114C>A
NM_054012.4:c.839-114C>A MANE Select	NP_446464.1:n.839-114C>A