Canonical Allele Identifier: CA5283128

Gene: ASS1

Linked Data

• dbSNP Id: rs144999474
• ExAC: 9:133327640 C / G
• MyVariant Identifiers: chr9:g.133327640C>G (hg19) ; chr9:g.130452253C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452253C>G , CM000671.2:g.130452253C>G	GRCh38
NC_000009.11:g.133327640C>G , CM000671.1:g.133327640C>G	GRCh37
NC_000009.10:g.132317461C>G	NCBI36
NG_011542.1:g.12547C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.25C>G MANE Select	ENSP00000253004.6:p.Leu9Val
ENST00000352480.9:c.25C>G	ENSP00000253004.6:p.Leu9Val
ENST00000372393.7:c.25C>G	ENSP00000361469.2:p.Leu9Val
ENST00000372394.5:c.25C>G	ENSP00000361471.1:p.Leu9Val
ENST00000422569.5:c.25C>G	ENSP00000394212.1:p.Leu9Val
ENST00000443588.1:c.25C>G	ENSP00000397785.1:p.Leu9Val
NM_000050.4:c.25C>G	NP_000041.2:p.Leu9Val
NM_054012.3:c.25C>G	NP_446464.1:p.Leu9Val
XM_005272200.2:c.25C>G	XP_005272257.1:p.Leu9Val
XM_011518705.1:c.139C>G	XP_011517007.1:p.Leu47Val
XM_005272200.3:c.25C>G	XP_005272257.1:p.Leu9Val
XM_011518705.2:c.139C>G	XP_011517007.1:p.Leu47Val
XM_017014729.1:c.121C>G	XP_016870218.1:p.Leu41Val
NM_054012.4:c.25C>G MANE Select	NP_446464.1:p.Leu9Val