Canonical Allele Identifier: CA375230778

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489443-T-C
• MyVariant Identifiers: chr9:g.133364830T>C (hg19) ; chr9:g.130489443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489443T>C , CM000671.2:g.130489443T>C	GRCh38
NC_000009.11:g.133364830T>C , CM000671.1:g.133364830T>C	GRCh37
NC_000009.10:g.132354651T>C	NCBI36
NG_011542.1:g.49737T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.949T>C MANE Select	ENSP00000253004.6:p.Phe317Leu
ENST00000352480.9:c.949T>C	ENSP00000253004.6:p.Phe317Leu
ENST00000372386.6:n.220T>C
ENST00000372393.7:c.949T>C	ENSP00000361469.2:p.Phe317Leu
ENST00000372394.5:c.949T>C	ENSP00000361471.1:p.Phe317Leu
NM_000050.4:c.949T>C	NP_000041.2:p.Phe317Leu
NM_054012.3:c.949T>C	NP_446464.1:p.Phe317Leu
XM_005272200.2:c.949T>C	XP_005272257.1:p.Phe317Leu
XM_011518705.1:c.1063T>C	XP_011517007.1:p.Phe355Leu
XM_005272200.3:c.949T>C	XP_005272257.1:p.Phe317Leu
XM_011518705.2:c.1063T>C	XP_011517007.1:p.Phe355Leu
XM_017014729.1:c.1045T>C	XP_016870218.1:p.Phe349Leu
NM_054012.4:c.949T>C MANE Select	NP_446464.1:p.Phe317Leu