Canonical Allele Identifier: CA375229025

Gene: ASS1

Linked Data

• ClinVar Variation Id: 225298
• ClinVar RCV Id: RCV000490502
• dbSNP Id: rs1085307056
• MyVariant Identifiers: chr9:g.133355103G>C (hg19) ; chr9:g.130479716G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130479716G>C , CM000671.2:g.130479716G>C	GRCh38
NC_000009.11:g.133355103G>C , CM000671.1:g.133355103G>C	GRCh37
NC_000009.10:g.132344924G>C	NCBI36
NG_011542.1:g.40010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.689G>C MANE Select	ENSP00000253004.6:p.Gly230Ala
ENST00000352480.9:c.689G>C	ENSP00000253004.6:p.Gly230Ala
ENST00000372393.7:c.689G>C	ENSP00000361469.2:p.Gly230Ala
ENST00000372394.5:c.689G>C	ENSP00000361471.1:p.Gly230Ala
ENST00000467695.5:n.398G>C
ENST00000470849.4:n.414G>C
ENST00000492400.5:n.198G>C
ENST00000493984.6:n.513-47G>C
NM_000050.4:c.689G>C	NP_000041.2:p.Gly230Ala
NM_054012.3:c.689G>C	NP_446464.1:p.Gly230Ala
XM_005272200.2:c.689G>C	XP_005272257.1:p.Gly230Ala
XM_011518705.1:c.803G>C	XP_011517007.1:p.Gly268Ala
XM_005272200.3:c.689G>C	XP_005272257.1:p.Gly230Ala
XM_011518705.2:c.803G>C	XP_011517007.1:p.Gly268Ala
XM_017014729.1:c.785G>C	XP_016870218.1:p.Gly262Ala
NM_054012.4:c.689G>C MANE Select	NP_446464.1:p.Gly230Ala