Canonical Allele Identifier: CA375223546

Gene: ASS1

Linked Data

• dbSNP Id: rs1845345553
• gnomAD v4: 9-130452274-G-C
• MyVariant Identifiers: chr9:g.133327661G>C (hg19) ; chr9:g.130452274G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452274G>C , CM000671.2:g.130452274G>C	GRCh38
NC_000009.11:g.133327661G>C , CM000671.1:g.133327661G>C	GRCh37
NC_000009.10:g.132317482G>C	NCBI36
NG_011542.1:g.12568G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.46G>C MANE Select	ENSP00000253004.6:p.Asp16His
ENST00000352480.9:c.46G>C	ENSP00000253004.6:p.Asp16His
ENST00000372393.7:c.46G>C	ENSP00000361469.2:p.Asp16His
ENST00000372394.5:c.46G>C	ENSP00000361471.1:p.Asp16His
ENST00000422569.5:c.46G>C	ENSP00000394212.1:p.Asp16His
ENST00000443588.1:c.46G>C	ENSP00000397785.1:p.Asp16His
NM_000050.4:c.46G>C	NP_000041.2:p.Asp16His
NM_054012.3:c.46G>C	NP_446464.1:p.Asp16His
XM_005272200.2:c.46G>C	XP_005272257.1:p.Asp16His
XM_011518705.1:c.160G>C	XP_011517007.1:p.Asp54His
XM_005272200.3:c.46G>C	XP_005272257.1:p.Asp16His
XM_011518705.2:c.160G>C	XP_011517007.1:p.Asp54His
XM_017014729.1:c.142G>C	XP_016870218.1:p.Asp48His
NM_054012.4:c.46G>C MANE Select	NP_446464.1:p.Asp16His