Canonical Allele Identifier: CA2697558095

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2693986
• ClinVar RCV Id: RCV003594734

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480461C>A , CM000671.2:g.130480461C>A	GRCh38
NC_000009.11:g.133355848C>A , CM000671.1:g.133355848C>A	GRCh37
NC_000009.10:g.132345669C>A	NCBI36
NG_011542.1:g.40755C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+12C>A MANE Select	ENSP00000253004.6:n.838+12C>A
ENST00000352480.9:c.838+12C>A	ENSP00000253004.6:n.838+12C>A
ENST00000372386.6:n.109+12C>A
ENST00000372393.7:c.838+12C>A	ENSP00000361469.2:n.838+12C>A
ENST00000372394.5:c.838+12C>A	ENSP00000361471.1:n.838+12C>A
ENST00000470849.4:n.563+12C>A
ENST00000492400.5:n.347+12C>A
ENST00000493984.6:n.615+12C>A
NM_000050.4:c.838+12C>A	NP_000041.2:n.838+12C>A
NM_054012.3:c.838+12C>A	NP_446464.1:n.838+12C>A
XM_005272200.2:c.838+12C>A	XP_005272257.1:n.838+12C>A
XM_011518705.1:c.952+12C>A	XP_011517007.1:n.952+12C>A
XM_005272200.3:c.838+12C>A	XP_005272257.1:n.838+12C>A
XM_011518705.2:c.952+12C>A	XP_011517007.1:n.952+12C>A
XM_017014729.1:c.934+12C>A	XP_016870218.1:n.934+12C>A
NM_054012.4:c.838+12C>A MANE Select	NP_446464.1:n.838+12C>A