Canonical Allele Identifier: CA375230825

Gene: ASS1

Linked Data

• dbSNP Id: rs2118864362
• gnomAD v3: 9-130489452-C-G
• gnomAD v4: 9-130489452-C-G
• MyVariant Identifiers: chr9:g.133364839C>G (hg19) ; chr9:g.130489452C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489452C>G , CM000671.2:g.130489452C>G	GRCh38
NC_000009.11:g.133364839C>G , CM000671.1:g.133364839C>G	GRCh37
NC_000009.10:g.132354660C>G	NCBI36
NG_011542.1:g.49746C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.958C>G MANE Select	ENSP00000253004.6:p.Leu320Val
ENST00000352480.9:c.958C>G	ENSP00000253004.6:p.Leu320Val
ENST00000372386.6:n.229C>G
ENST00000372393.7:c.958C>G	ENSP00000361469.2:p.Leu320Val
ENST00000372394.5:c.958C>G	ENSP00000361471.1:p.Leu320Val
NM_000050.4:c.958C>G	NP_000041.2:p.Leu320Val
NM_054012.3:c.958C>G	NP_446464.1:p.Leu320Val
XM_005272200.2:c.958C>G	XP_005272257.1:p.Leu320Val
XM_011518705.1:c.1072C>G	XP_011517007.1:p.Leu358Val
XM_005272200.3:c.958C>G	XP_005272257.1:p.Leu320Val
XM_011518705.2:c.1072C>G	XP_011517007.1:p.Leu358Val
XM_017014729.1:c.1054C>G	XP_016870218.1:p.Leu352Val
NM_054012.4:c.958C>G MANE Select	NP_446464.1:p.Leu320Val