Canonical Allele Identifier: CA467389253

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1560491
• ClinVar RCV Id: RCV002197819
• dbSNP Id: rs2131887137
• MyVariant Identifiers: chr9:g.133346887C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471500C>T , CM000671.2:g.130471500C>T	GRCh38
NC_000009.11:g.133346887C>T , CM000671.1:g.133346887C>T	GRCh37
NC_000009.10:g.132336708C>T	NCBI36
NG_011542.1:g.31794C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.582C>T MANE Select	ENSP00000253004.6:p.Ile194=
ENST00000352480.9:c.582C>T	ENSP00000253004.6:p.Ile194=
ENST00000372393.7:c.582C>T	ENSP00000361469.2:p.Ile194=
ENST00000372394.5:c.582C>T	ENSP00000361471.1:p.Ile194=
ENST00000422569.5:c.582C>T	ENSP00000394212.1:p.Ile194=
ENST00000443588.1:c.525C>T	ENSP00000397785.1:p.Ile175=
ENST00000467695.5:n.291C>T
ENST00000493984.6:n.413C>T
NM_000050.4:c.582C>T	NP_000041.2:p.Ile194=
NM_054012.3:c.582C>T	NP_446464.1:p.Ile194=
XM_005272200.2:c.582C>T	XP_005272257.1:p.Ile194=
XM_011518705.1:c.696C>T	XP_011517007.1:p.Ile232=
XM_005272200.3:c.582C>T	XP_005272257.1:p.Ile194=
XM_011518705.2:c.696C>T	XP_011517007.1:p.Ile232=
XM_017014729.1:c.678C>T	XP_016870218.1:p.Ile226=
NM_054012.4:c.582C>T MANE Select	NP_446464.1:p.Ile194=