Canonical Allele Identifier: CA375230540

Gene: ASS1

Linked Data

• dbSNP Id: rs1278663122
• gnomAD v2: 9-133364765-T-G
• gnomAD v4: 9-130489378-T-G
• MyVariant Identifiers: chr9:g.133364765T>G (hg19) ; chr9:g.130489378T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489378T>G , CM000671.2:g.130489378T>G	GRCh38
NC_000009.11:g.133364765T>G , CM000671.1:g.133364765T>G	GRCh37
NC_000009.10:g.132354586T>G	NCBI36
NG_011542.1:g.49672T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.884T>G MANE Select	ENSP00000253004.6:p.Leu295Ter
ENST00000352480.9:c.884T>G	ENSP00000253004.6:p.Leu295Ter
ENST00000372386.6:n.155T>G
ENST00000372393.7:c.884T>G	ENSP00000361469.2:p.Leu295Ter
ENST00000372394.5:c.884T>G	ENSP00000361471.1:p.Leu295Ter
ENST00000470849.4:n.609T>G
ENST00000492400.5:n.393T>G
ENST00000493984.6:n.661T>G
NM_000050.4:c.884T>G	NP_000041.2:p.Leu295Ter
NM_054012.3:c.884T>G	NP_446464.1:p.Leu295Ter
XM_005272200.2:c.884T>G	XP_005272257.1:p.Leu295Ter
XM_011518705.1:c.998T>G	XP_011517007.1:p.Leu333Ter
XM_005272200.3:c.884T>G	XP_005272257.1:p.Leu295Ter
XM_011518705.2:c.998T>G	XP_011517007.1:p.Leu333Ter
XM_017014729.1:c.980T>G	XP_016870218.1:p.Leu327Ter
NM_054012.4:c.884T>G MANE Select	NP_446464.1:p.Leu295Ter