Canonical Allele Identifier: CA375223665

Gene: ASS1

Linked Data

• gnomAD v4: 9-130452330-T-G
• MyVariant Identifiers: chr9:g.133327717T>G (hg19) ; chr9:g.130452330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452330T>G , CM000671.2:g.130452330T>G	GRCh38
NC_000009.11:g.133327717T>G , CM000671.1:g.133327717T>G	GRCh37
NC_000009.10:g.132317538T>G	NCBI36
NG_011542.1:g.12624T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.102T>G MANE Select	ENSP00000253004.6:p.Tyr34Ter
ENST00000352480.9:c.102T>G	ENSP00000253004.6:p.Tyr34Ter
ENST00000372393.7:c.102T>G	ENSP00000361469.2:p.Tyr34Ter
ENST00000372394.5:c.102T>G	ENSP00000361471.1:p.Tyr34Ter
ENST00000422569.5:c.102T>G	ENSP00000394212.1:p.Tyr34Ter
ENST00000443588.1:c.102T>G	ENSP00000397785.1:p.Tyr34Ter
NM_000050.4:c.102T>G	NP_000041.2:p.Tyr34Ter
NM_054012.3:c.102T>G	NP_446464.1:p.Tyr34Ter
XM_005272200.2:c.102T>G	XP_005272257.1:p.Tyr34Ter
XM_011518705.1:c.216T>G	XP_011517007.1:p.Tyr72Ter
XM_005272200.3:c.102T>G	XP_005272257.1:p.Tyr34Ter
XM_011518705.2:c.216T>G	XP_011517007.1:p.Tyr72Ter
XM_017014729.1:c.198T>G	XP_016870218.1:p.Tyr66Ter
NM_054012.4:c.102T>G MANE Select	NP_446464.1:p.Tyr34Ter