Canonical Allele Identifier: CA467385661

Gene: ASS1

Linked Data

• dbSNP Id: rs1209728293
• gnomAD v3: 9-130489403-C-T
• gnomAD v4: 9-130489403-C-T
• MyVariant Identifiers: chr9:g.133364790C>T (hg19) ; chr9:g.130489403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489403C>T , CM000671.2:g.130489403C>T	GRCh38
NC_000009.11:g.133364790C>T , CM000671.1:g.133364790C>T	GRCh37
NC_000009.10:g.132354611C>T	NCBI36
NG_011542.1:g.49697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.909C>T MANE Select	ENSP00000253004.6:p.Asp303=
ENST00000352480.9:c.909C>T	ENSP00000253004.6:p.Asp303=
ENST00000372386.6:n.180C>T
ENST00000372393.7:c.909C>T	ENSP00000361469.2:p.Asp303=
ENST00000372394.5:c.909C>T	ENSP00000361471.1:p.Asp303=
ENST00000470849.4:n.634C>T
ENST00000492400.5:n.418C>T
ENST00000493984.6:n.686C>T
NM_000050.4:c.909C>T	NP_000041.2:p.Asp303=
NM_054012.3:c.909C>T	NP_446464.1:p.Asp303=
XM_005272200.2:c.909C>T	XP_005272257.1:p.Asp303=
XM_011518705.1:c.1023C>T	XP_011517007.1:p.Asp341=
XM_005272200.3:c.909C>T	XP_005272257.1:p.Asp303=
XM_011518705.2:c.1023C>T	XP_011517007.1:p.Asp341=
XM_017014729.1:c.1005C>T	XP_016870218.1:p.Asp335=
NM_054012.4:c.909C>T MANE Select	NP_446464.1:p.Asp303=