Canonical Allele Identifier: CA375229495

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133355815T>C (hg19) ; chr9:g.130480428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480428T>C , CM000671.2:g.130480428T>C	GRCh38
NC_000009.11:g.133355815T>C , CM000671.1:g.133355815T>C	GRCh37
NC_000009.10:g.132345636T>C	NCBI36
NG_011542.1:g.40722T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.817T>C MANE Select	ENSP00000253004.6:p.Phe273Leu
ENST00000352480.9:c.817T>C	ENSP00000253004.6:p.Phe273Leu
ENST00000372386.6:n.88T>C
ENST00000372393.7:c.817T>C	ENSP00000361469.2:p.Phe273Leu
ENST00000372394.5:c.817T>C	ENSP00000361471.1:p.Phe273Leu
ENST00000470849.4:n.542T>C
ENST00000492400.5:n.326T>C
ENST00000493984.6:n.594T>C
NM_000050.4:c.817T>C	NP_000041.2:p.Phe273Leu
NM_054012.3:c.817T>C	NP_446464.1:p.Phe273Leu
XM_005272200.2:c.817T>C	XP_005272257.1:p.Phe273Leu
XM_011518705.1:c.931T>C	XP_011517007.1:p.Phe311Leu
XM_005272200.3:c.817T>C	XP_005272257.1:p.Phe273Leu
XM_011518705.2:c.931T>C	XP_011517007.1:p.Phe311Leu
XM_017014729.1:c.913T>C	XP_016870218.1:p.Phe305Leu
NM_054012.4:c.817T>C MANE Select	NP_446464.1:p.Phe273Leu