Canonical Allele Identifier: CA375225169

Gene: ASS1

Linked Data

• gnomAD v4: 9-130458489-T-C
• MyVariant Identifiers: chr9:g.133333876T>C (hg19) ; chr9:g.130458489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458489T>C , CM000671.2:g.130458489T>C	GRCh38
NC_000009.11:g.133333876T>C , CM000671.1:g.133333876T>C	GRCh37
NC_000009.10:g.132323697T>C	NCBI36
NG_011542.1:g.18783T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.263T>C MANE Select	ENSP00000253004.6:p.Leu88Pro
ENST00000352480.9:c.263T>C	ENSP00000253004.6:p.Leu88Pro
ENST00000372393.7:c.263T>C	ENSP00000361469.2:p.Leu88Pro
ENST00000372394.5:c.263T>C	ENSP00000361471.1:p.Leu88Pro
ENST00000422569.5:c.263T>C	ENSP00000394212.1:p.Leu88Pro
ENST00000443588.1:c.263T>C	ENSP00000397785.1:p.Leu88Pro
NM_000050.4:c.263T>C	NP_000041.2:p.Leu88Pro
NM_054012.3:c.263T>C	NP_446464.1:p.Leu88Pro
XM_005272200.2:c.263T>C	XP_005272257.1:p.Leu88Pro
XM_011518705.1:c.377T>C	XP_011517007.1:p.Leu126Pro
XM_005272200.3:c.263T>C	XP_005272257.1:p.Leu88Pro
XM_011518705.2:c.377T>C	XP_011517007.1:p.Leu126Pro
XM_017014729.1:c.359T>C	XP_016870218.1:p.Leu120Pro
NM_054012.4:c.263T>C MANE Select	NP_446464.1:p.Leu88Pro