Canonical Allele Identifier: CA2692119068

Gene: ASS1

Linked Data

• gnomAD v4: 9-130452031-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452031C>A , CM000671.2:g.130452031C>A	GRCh38
NC_000009.11:g.133327418C>A , CM000671.1:g.133327418C>A	GRCh37
NC_000009.10:g.132317239C>A	NCBI36
NG_011542.1:g.12325C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.-5-193C>A MANE Select	ENSP00000253004.6:n.-5-193C>A
ENST00000352480.9:c.-5-193C>A	ENSP00000253004.6:n.-5-193C>A
ENST00000372393.7:c.-5-193C>A	ENSP00000361469.2:n.-5-193C>A
ENST00000372394.5:c.-18C>A	ENSP00000361471.1:n.-18C>A
ENST00000422569.5:c.-5-193C>A	ENSP00000394212.1:n.-5-193C>A
NM_000050.4:c.-5-193C>A	NP_000041.2:n.-5-193C>A
NM_054012.3:c.-5-193C>A	NP_446464.1:n.-5-193C>A
XM_005272200.2:c.-5-193C>A	XP_005272257.1:n.-5-193C>A
XM_011518705.1:c.110-193C>A	XP_011517007.1:n.110-193C>A
XM_005272200.3:c.-5-193C>A	XP_005272257.1:n.-5-193C>A
XM_011518705.2:c.110-193C>A	XP_011517007.1:n.110-193C>A
XM_017014729.1:c.92-193C>A	XP_016870218.1:n.92-193C>A
NM_054012.4:c.-5-193C>A MANE Select	NP_446464.1:n.-5-193C>A