Canonical Allele Identifier: CA2692120237

Gene: ASS1

Linked Data

• gnomAD v4: 9-130471455-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471455C>G , CM000671.2:g.130471455C>G	GRCh38
NC_000009.11:g.133346842C>G , CM000671.1:g.133346842C>G	GRCh37
NC_000009.10:g.132336663C>G	NCBI36
NG_011542.1:g.31749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.567-30C>G MANE Select	ENSP00000253004.6:n.567-30C>G
ENST00000352480.9:c.567-30C>G	ENSP00000253004.6:n.567-30C>G
ENST00000372393.7:c.567-30C>G	ENSP00000361469.2:n.567-30C>G
ENST00000372394.5:c.567-30C>G	ENSP00000361471.1:n.567-30C>G
ENST00000422569.5:c.567-30C>G	ENSP00000394212.1:n.567-30C>G
ENST00000443588.1:c.510-30C>G	ENSP00000397785.1:n.510-30C>G
ENST00000467695.5:n.276-30C>G
ENST00000493984.6:n.398-30C>G
NM_000050.4:c.567-30C>G	NP_000041.2:n.567-30C>G
NM_054012.3:c.567-30C>G	NP_446464.1:n.567-30C>G
XM_005272200.2:c.567-30C>G	XP_005272257.1:n.567-30C>G
XM_011518705.1:c.681-30C>G	XP_011517007.1:n.681-30C>G
XM_005272200.3:c.567-30C>G	XP_005272257.1:n.567-30C>G
XM_011518705.2:c.681-30C>G	XP_011517007.1:n.681-30C>G
XM_017014729.1:c.663-30C>G	XP_016870218.1:n.663-30C>G
NM_054012.4:c.567-30C>G MANE Select	NP_446464.1:n.567-30C>G