Canonical Allele Identifier: CA375229530

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1422113
• ClinVar RCV Id: RCV001926052
• dbSNP Id: rs2118841820
• MyVariant Identifiers: chr9:g.133355829G>C (hg19) ; chr9:g.130480442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480442G>C , CM000671.2:g.130480442G>C	GRCh38
NC_000009.11:g.133355829G>C , CM000671.1:g.133355829G>C	GRCh37
NC_000009.10:g.132345650G>C	NCBI36
NG_011542.1:g.40736G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.831G>C MANE Select	ENSP00000253004.6:p.Lys277Asn
ENST00000352480.9:c.831G>C	ENSP00000253004.6:p.Lys277Asn
ENST00000372386.6:n.102G>C
ENST00000372393.7:c.831G>C	ENSP00000361469.2:p.Lys277Asn
ENST00000372394.5:c.831G>C	ENSP00000361471.1:p.Lys277Asn
ENST00000470849.4:n.556G>C
ENST00000492400.5:n.340G>C
ENST00000493984.6:n.608G>C
NM_000050.4:c.831G>C	NP_000041.2:p.Lys277Asn
NM_054012.3:c.831G>C	NP_446464.1:p.Lys277Asn
XM_005272200.2:c.831G>C	XP_005272257.1:p.Lys277Asn
XM_011518705.1:c.945G>C	XP_011517007.1:p.Lys315Asn
XM_005272200.3:c.831G>C	XP_005272257.1:p.Lys277Asn
XM_011518705.2:c.945G>C	XP_011517007.1:p.Lys315Asn
XM_017014729.1:c.927G>C	XP_016870218.1:p.Lys309Asn
NM_054012.4:c.831G>C MANE Select	NP_446464.1:p.Lys277Asn