Canonical Allele Identifier: CA1129503258

Gene: ASS1

Linked Data

• dbSNP Id: rs1846138617
• gnomAD v3: 9-130480372-G-A
• gnomAD v4: 9-130480372-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480372G>A , CM000671.2:g.130480372G>A	GRCh38
NC_000009.11:g.133355759G>A , CM000671.1:g.133355759G>A	GRCh37
NC_000009.10:g.132345580G>A	NCBI36
NG_011542.1:g.40666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.774-13G>A MANE Select	ENSP00000253004.6:n.774-13G>A
ENST00000352480.9:c.774-13G>A	ENSP00000253004.6:n.774-13G>A
ENST00000372386.6:n.45-13G>A
ENST00000372393.7:c.774-13G>A	ENSP00000361469.2:n.774-13G>A
ENST00000372394.5:c.774-13G>A	ENSP00000361471.1:n.774-13G>A
ENST00000470849.4:n.499-13G>A
ENST00000492400.5:n.283-13G>A
ENST00000493984.6:n.551-13G>A
NM_000050.4:c.774-13G>A	NP_000041.2:n.774-13G>A
NM_054012.3:c.774-13G>A	NP_446464.1:n.774-13G>A
XM_005272200.2:c.774-13G>A	XP_005272257.1:n.774-13G>A
XM_011518705.1:c.888-13G>A	XP_011517007.1:n.888-13G>A
XM_005272200.3:c.774-13G>A	XP_005272257.1:n.774-13G>A
XM_011518705.2:c.888-13G>A	XP_011517007.1:n.888-13G>A
XM_017014729.1:c.870-13G>A	XP_016870218.1:n.870-13G>A
NM_054012.4:c.774-13G>A MANE Select	NP_446464.1:n.774-13G>A