Canonical Allele Identifier: CA5283212

Gene: ASS1

Linked Data

• ClinVar Variation Id: 719013
• ClinVar RCV Id: RCV000892064 ; RCV001830947
• dbSNP Id: rs749648285
• ExAC: 9:133333874 C / T
• gnomAD v2: 9-133333874-C-T
• gnomAD v3: 9-130458487-C-T
• gnomAD v4: 9-130458487-C-T
• MyVariant Identifiers: chr9:g.133333874C>T (hg19) ; chr9:g.130458487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458487C>T , CM000671.2:g.130458487C>T	GRCh38
NC_000009.11:g.133333874C>T , CM000671.1:g.133333874C>T	GRCh37
NC_000009.10:g.132323695C>T	NCBI36
NG_011542.1:g.18781C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.261C>T MANE Select	ENSP00000253004.6:p.Tyr87=
ENST00000352480.9:c.261C>T	ENSP00000253004.6:p.Tyr87=
ENST00000372393.7:c.261C>T	ENSP00000361469.2:p.Tyr87=
ENST00000372394.5:c.261C>T	ENSP00000361471.1:p.Tyr87=
ENST00000422569.5:c.261C>T	ENSP00000394212.1:p.Tyr87=
ENST00000443588.1:c.261C>T	ENSP00000397785.1:p.Tyr87=
NM_000050.4:c.261C>T	NP_000041.2:p.Tyr87=
NM_054012.3:c.261C>T	NP_446464.1:p.Tyr87=
XM_005272200.2:c.261C>T	XP_005272257.1:p.Tyr87=
XM_011518705.1:c.375C>T	XP_011517007.1:p.Tyr125=
XM_005272200.3:c.261C>T	XP_005272257.1:p.Tyr87=
XM_011518705.2:c.375C>T	XP_011517007.1:p.Tyr125=
XM_017014729.1:c.357C>T	XP_016870218.1:p.Tyr119=
NM_054012.4:c.261C>T MANE Select	NP_446464.1:p.Tyr87=