Canonical Allele Identifier: CA375229450

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1019261
• ClinVar RCV Id: RCV001318678
• dbSNP Id: rs398123131
• MyVariant Identifiers: chr9:g.133355792G>T (hg19) ; chr9:g.130480405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480405G>T , CM000671.2:g.130480405G>T	GRCh38
NC_000009.11:g.133355792G>T , CM000671.1:g.133355792G>T	GRCh37
NC_000009.10:g.132345613G>T	NCBI36
NG_011542.1:g.40699G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.794G>T MANE Select	ENSP00000253004.6:p.Arg265Leu
ENST00000352480.9:c.794G>T	ENSP00000253004.6:p.Arg265Leu
ENST00000372386.6:n.65G>T
ENST00000372393.7:c.794G>T	ENSP00000361469.2:p.Arg265Leu
ENST00000372394.5:c.794G>T	ENSP00000361471.1:p.Arg265Leu
ENST00000470849.4:n.519G>T
ENST00000492400.5:n.303G>T
ENST00000493984.6:n.571G>T
NM_000050.4:c.794G>T	NP_000041.2:p.Arg265Leu
NM_054012.3:c.794G>T	NP_446464.1:p.Arg265Leu
XM_005272200.2:c.794G>T	XP_005272257.1:p.Arg265Leu
XM_011518705.1:c.908G>T	XP_011517007.1:p.Arg303Leu
XM_005272200.3:c.794G>T	XP_005272257.1:p.Arg265Leu
XM_011518705.2:c.908G>T	XP_011517007.1:p.Arg303Leu
XM_017014729.1:c.890G>T	XP_016870218.1:p.Arg297Leu
NM_054012.4:c.794G>T MANE Select	NP_446464.1:p.Arg265Leu