Canonical Allele Identifier: CA16041297

Gene: ASS1

Linked Data

• ClinVar Variation Id: 371044
• ClinVar RCV Id: RCV000411464
• dbSNP Id: rs1057516960
• MyVariant Identifiers: chr9:g.133327618G>A (hg19) ; chr9:g.130452231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452231G>A , CM000671.2:g.130452231G>A	GRCh38
NC_000009.11:g.133327618G>A , CM000671.1:g.133327618G>A	GRCh37
NC_000009.10:g.132317439G>A	NCBI36
NG_011542.1:g.12525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.3G>A MANE Select	ENSP00000253004.6:p.Met1Ile
ENST00000352480.9:c.3G>A	ENSP00000253004.6:p.Met1Ile
ENST00000372393.7:c.3G>A	ENSP00000361469.2:p.Met1Ile
ENST00000372394.5:c.3G>A	ENSP00000361471.1:p.Met1Ile
ENST00000422569.5:c.3G>A	ENSP00000394212.1:p.Met1Ile
ENST00000443588.1:c.3G>A	ENSP00000397785.1:p.Met1Ile
NM_000050.4:c.3G>A	NP_000041.2:p.Met1Ile
NM_054012.3:c.3G>A	NP_446464.1:p.Met1Ile
XM_005272200.2:c.3G>A	XP_005272257.1:p.Met1Ile
XM_011518705.1:c.117G>A	XP_011517007.1:p.Met39Ile
XM_005272200.3:c.3G>A	XP_005272257.1:p.Met1Ile
XM_011518705.2:c.117G>A	XP_011517007.1:p.Met39Ile
XM_017014729.1:c.99G>A	XP_016870218.1:p.Met33Ile
NM_054012.4:c.3G>A MANE Select	NP_446464.1:p.Met1Ile