Canonical Allele Identifier: CA375230510

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489366-A-C
• MyVariant Identifiers: chr9:g.133364753A>C (hg19) ; chr9:g.130489366A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489366A>C , CM000671.2:g.130489366A>C	GRCh38
NC_000009.11:g.133364753A>C , CM000671.1:g.133364753A>C	GRCh37
NC_000009.10:g.132354574A>C	NCBI36
NG_011542.1:g.49660A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.872A>C MANE Select	ENSP00000253004.6:p.Tyr291Ser
ENST00000352480.9:c.872A>C	ENSP00000253004.6:p.Tyr291Ser
ENST00000372386.6:n.143A>C
ENST00000372393.7:c.872A>C	ENSP00000361469.2:p.Tyr291Ser
ENST00000372394.5:c.872A>C	ENSP00000361471.1:p.Tyr291Ser
ENST00000470849.4:n.597A>C
ENST00000492400.5:n.381A>C
ENST00000493984.6:n.649A>C
NM_000050.4:c.872A>C	NP_000041.2:p.Tyr291Ser
NM_054012.3:c.872A>C	NP_446464.1:p.Tyr291Ser
XM_005272200.2:c.872A>C	XP_005272257.1:p.Tyr291Ser
XM_011518705.1:c.986A>C	XP_011517007.1:p.Tyr329Ser
XM_005272200.3:c.872A>C	XP_005272257.1:p.Tyr291Ser
XM_011518705.2:c.986A>C	XP_011517007.1:p.Tyr329Ser
XM_017014729.1:c.968A>C	XP_016870218.1:p.Tyr323Ser
NM_054012.4:c.872A>C MANE Select	NP_446464.1:p.Tyr291Ser