Canonical Allele Identifier: CA467388115

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1578391
• ClinVar RCV Id: RCV002083566
• dbSNP Id: rs555717331
• MyVariant Identifiers: chr9:g.133327633C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452246C>G , CM000671.2:g.130452246C>G	GRCh38
NC_000009.11:g.133327633C>G , CM000671.1:g.133327633C>G	GRCh37
NC_000009.10:g.132317454C>G	NCBI36
NG_011542.1:g.12540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.18C>G MANE Select	ENSP00000253004.6:p.Ser6=
ENST00000352480.9:c.18C>G	ENSP00000253004.6:p.Ser6=
ENST00000372393.7:c.18C>G	ENSP00000361469.2:p.Ser6=
ENST00000372394.5:c.18C>G	ENSP00000361471.1:p.Ser6=
ENST00000422569.5:c.18C>G	ENSP00000394212.1:p.Ser6=
ENST00000443588.1:c.18C>G	ENSP00000397785.1:p.Ser6=
NM_000050.4:c.18C>G	NP_000041.2:p.Ser6=
NM_054012.3:c.18C>G	NP_446464.1:p.Ser6=
XM_005272200.2:c.18C>G	XP_005272257.1:p.Ser6=
XM_011518705.1:c.132C>G	XP_011517007.1:p.Ser44=
XM_005272200.3:c.18C>G	XP_005272257.1:p.Ser6=
XM_011518705.2:c.132C>G	XP_011517007.1:p.Ser44=
XM_017014729.1:c.114C>G	XP_016870218.1:p.Ser38=
NM_054012.4:c.18C>G MANE Select	NP_446464.1:p.Ser6=