Canonical Allele Identifier: CA375227490

Gene: ASS1

Linked Data

• dbSNP Id: rs1845864978
• MyVariant Identifiers: chr9:g.133346885A>C (hg19) ; chr9:g.130471498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471498A>C , CM000671.2:g.130471498A>C	GRCh38
NC_000009.11:g.133346885A>C , CM000671.1:g.133346885A>C	GRCh37
NC_000009.10:g.132336706A>C	NCBI36
NG_011542.1:g.31792A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.580A>C MANE Select	ENSP00000253004.6:p.Ile194Leu
ENST00000352480.9:c.580A>C	ENSP00000253004.6:p.Ile194Leu
ENST00000372393.7:c.580A>C	ENSP00000361469.2:p.Ile194Leu
ENST00000372394.5:c.580A>C	ENSP00000361471.1:p.Ile194Leu
ENST00000422569.5:c.580A>C	ENSP00000394212.1:p.Ile194Leu
ENST00000443588.1:c.523A>C	ENSP00000397785.1:p.Ile175Leu
ENST00000467695.5:n.289A>C
ENST00000493984.6:n.411A>C
NM_000050.4:c.580A>C	NP_000041.2:p.Ile194Leu
NM_054012.3:c.580A>C	NP_446464.1:p.Ile194Leu
XM_005272200.2:c.580A>C	XP_005272257.1:p.Ile194Leu
XM_011518705.1:c.694A>C	XP_011517007.1:p.Ile232Leu
XM_005272200.3:c.580A>C	XP_005272257.1:p.Ile194Leu
XM_011518705.2:c.694A>C	XP_011517007.1:p.Ile232Leu
XM_017014729.1:c.676A>C	XP_016870218.1:p.Ile226Leu
NM_054012.4:c.580A>C MANE Select	NP_446464.1:p.Ile194Leu