Canonical Allele Identifier: CA200580745

Gene: ASS1

Linked Data

• dbSNP Id: rs544170871
• MyVariant Identifiers: chr9:g.133355809A>T (hg19) ; chr9:g.130480422A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480422A>T , CM000671.2:g.130480422A>T	GRCh38
NC_000009.11:g.133355809A>T , CM000671.1:g.133355809A>T	GRCh37
NC_000009.10:g.132345630A>T	NCBI36
NG_011542.1:g.40716A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.811A>T MANE Select	ENSP00000253004.6:p.Asn271Tyr
ENST00000352480.9:c.811A>T	ENSP00000253004.6:p.Asn271Tyr
ENST00000372386.6:n.82A>T
ENST00000372393.7:c.811A>T	ENSP00000361469.2:p.Asn271Tyr
ENST00000372394.5:c.811A>T	ENSP00000361471.1:p.Asn271Tyr
ENST00000470849.4:n.536A>T
ENST00000492400.5:n.320A>T
ENST00000493984.6:n.588A>T
NM_000050.4:c.811A>T	NP_000041.2:p.Asn271Tyr
NM_054012.3:c.811A>T	NP_446464.1:p.Asn271Tyr
XM_005272200.2:c.811A>T	XP_005272257.1:p.Asn271Tyr
XM_011518705.1:c.925A>T	XP_011517007.1:p.Asn309Tyr
XM_005272200.3:c.811A>T	XP_005272257.1:p.Asn271Tyr
XM_011518705.2:c.925A>T	XP_011517007.1:p.Asn309Tyr
XM_017014729.1:c.907A>T	XP_016870218.1:p.Asn303Tyr
NM_054012.4:c.811A>T MANE Select	NP_446464.1:p.Asn271Tyr