Canonical Allele Identifier: CA467388515

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2001370
• ClinVar RCV Id: RCV002815373
• gnomAD v4: 9-130458493-G-C
• MyVariant Identifiers: chr9:g.133333880G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458493G>C , CM000671.2:g.130458493G>C	GRCh38
NC_000009.11:g.133333880G>C , CM000671.1:g.133333880G>C	GRCh37
NC_000009.10:g.132323701G>C	NCBI36
NG_011542.1:g.18787G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.267G>C MANE Select	ENSP00000253004.6:p.Leu89=
ENST00000352480.9:c.267G>C	ENSP00000253004.6:p.Leu89=
ENST00000372393.7:c.267G>C	ENSP00000361469.2:p.Leu89=
ENST00000372394.5:c.267G>C	ENSP00000361471.1:p.Leu89=
ENST00000422569.5:c.267G>C	ENSP00000394212.1:p.Leu89=
ENST00000443588.1:c.267G>C	ENSP00000397785.1:p.Leu89=
NM_000050.4:c.267G>C	NP_000041.2:p.Leu89=
NM_054012.3:c.267G>C	NP_446464.1:p.Leu89=
XM_005272200.2:c.267G>C	XP_005272257.1:p.Leu89=
XM_011518705.1:c.381G>C	XP_011517007.1:p.Leu127=
XM_005272200.3:c.267G>C	XP_005272257.1:p.Leu89=
XM_011518705.2:c.381G>C	XP_011517007.1:p.Leu127=
XM_017014729.1:c.363G>C	XP_016870218.1:p.Leu121=
NM_054012.4:c.267G>C MANE Select	NP_446464.1:p.Leu89=