Canonical Allele Identifier: CA2843571897

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480462A>G , CM000671.2:g.130480462A>G	GRCh38
NC_000009.11:g.133355849A>G , CM000671.1:g.133355849A>G	GRCh37
NC_000009.10:g.132345670A>G	NCBI36
NG_011542.1:g.40756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+13A>G MANE Select	ENSP00000253004.6:n.838+13A>G
ENST00000352480.9:c.838+13A>G	ENSP00000253004.6:n.838+13A>G
ENST00000372386.6:n.109+13A>G
ENST00000372393.7:c.838+13A>G	ENSP00000361469.2:n.838+13A>G
ENST00000372394.5:c.838+13A>G	ENSP00000361471.1:n.838+13A>G
ENST00000470849.4:n.563+13A>G
ENST00000492400.5:n.347+13A>G
ENST00000493984.6:n.615+13A>G
NM_000050.4:c.838+13A>G	NP_000041.2:n.838+13A>G
NM_054012.3:c.838+13A>G	NP_446464.1:n.838+13A>G
XM_005272200.2:c.838+13A>G	XP_005272257.1:n.838+13A>G
XM_011518705.1:c.952+13A>G	XP_011517007.1:n.952+13A>G
XM_005272200.3:c.838+13A>G	XP_005272257.1:n.838+13A>G
XM_011518705.2:c.952+13A>G	XP_011517007.1:n.952+13A>G
XM_017014729.1:c.934+13A>G	XP_016870218.1:n.934+13A>G
NM_054012.4:c.838+13A>G MANE Select	NP_446464.1:n.838+13A>G