Canonical Allele Identifier: CA467385577

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1528593
• ClinVar RCV Id: RCV002077556
• dbSNP Id: rs1588503529
• MyVariant Identifiers: chr9:g.133364721T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489334T>C , CM000671.2:g.130489334T>C	GRCh38
NC_000009.11:g.133364721T>C , CM000671.1:g.133364721T>C	GRCh37
NC_000009.10:g.132354542T>C	NCBI36
NG_011542.1:g.49628T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.840T>C MANE Select	ENSP00000253004.6:p.Gly280=
ENST00000352480.9:c.840T>C	ENSP00000253004.6:p.Gly280=
ENST00000372386.6:n.111T>C
ENST00000372393.7:c.840T>C	ENSP00000361469.2:p.Gly280=
ENST00000372394.5:c.840T>C	ENSP00000361471.1:p.Gly280=
ENST00000470849.4:n.565T>C
ENST00000492400.5:n.349T>C
ENST00000493984.6:n.617T>C
NM_000050.4:c.840T>C	NP_000041.2:p.Gly280=
NM_054012.3:c.840T>C	NP_446464.1:p.Gly280=
XM_005272200.2:c.840T>C	XP_005272257.1:p.Gly280=
XM_011518705.1:c.954T>C	XP_011517007.1:p.Gly318=
XM_005272200.3:c.840T>C	XP_005272257.1:p.Gly280=
XM_011518705.2:c.954T>C	XP_011517007.1:p.Gly318=
XM_017014729.1:c.936T>C	XP_016870218.1:p.Gly312=
NM_054012.4:c.840T>C MANE Select	NP_446464.1:p.Gly280=