Canonical Allele Identifier: CA5283561

Gene: ASS1

Linked Data

• ClinVar Variation Id: 365258
• ClinVar RCV Id: RCV001434170
• dbSNP Id: rs549085827
• ExAC: 9:133364727 C / T
• gnomAD v2: 9-133364727-C-T
• gnomAD v3: 9-130489340-C-T
• gnomAD v4: 9-130489340-C-T
• MyVariant Identifiers: chr9:g.133364727C>T (hg19) ; chr9:g.130489340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489340C>T , CM000671.2:g.130489340C>T	GRCh38
NC_000009.11:g.133364727C>T , CM000671.1:g.133364727C>T	GRCh37
NC_000009.10:g.132354548C>T	NCBI36
NG_011542.1:g.49634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.846C>T MANE Select	ENSP00000253004.6:p.Tyr282=
ENST00000352480.9:c.846C>T	ENSP00000253004.6:p.Tyr282=
ENST00000372386.6:n.117C>T
ENST00000372393.7:c.846C>T	ENSP00000361469.2:p.Tyr282=
ENST00000372394.5:c.846C>T	ENSP00000361471.1:p.Tyr282=
ENST00000470849.4:n.571C>T
ENST00000492400.5:n.355C>T
ENST00000493984.6:n.623C>T
NM_000050.4:c.846C>T	NP_000041.2:p.Tyr282=
NM_054012.3:c.846C>T	NP_446464.1:p.Tyr282=
XM_005272200.2:c.846C>T	XP_005272257.1:p.Tyr282=
XM_011518705.1:c.960C>T	XP_011517007.1:p.Tyr320=
XM_005272200.3:c.846C>T	XP_005272257.1:p.Tyr282=
XM_011518705.2:c.960C>T	XP_011517007.1:p.Tyr320=
XM_017014729.1:c.942C>T	XP_016870218.1:p.Tyr314=
NM_054012.4:c.846C>T MANE Select	NP_446464.1:p.Tyr282=