Canonical Allele Identifier: CA5283514

Gene: ASS1

Linked Data

• dbSNP Id: rs373782570
• ExAC: 9:133355731 T / C
• gnomAD v2: 9-133355731-T-C
• gnomAD v3: 9-130480344-T-C
• gnomAD v4: 9-130480344-T-C
• MyVariant Identifiers: chr9:g.133355731T>C (hg19) ; chr9:g.130480344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480344T>C , CM000671.2:g.130480344T>C	GRCh38
NC_000009.11:g.133355731T>C , CM000671.1:g.133355731T>C	GRCh37
NC_000009.10:g.132345552T>C	NCBI36
NG_011542.1:g.40638T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.774-41T>C MANE Select	ENSP00000253004.6:n.774-41T>C
ENST00000352480.9:c.774-41T>C	ENSP00000253004.6:n.774-41T>C
ENST00000372386.6:n.45-41T>C
ENST00000372393.7:c.774-41T>C	ENSP00000361469.2:n.774-41T>C
ENST00000372394.5:c.774-41T>C	ENSP00000361471.1:n.774-41T>C
ENST00000470849.4:n.499-41T>C
ENST00000492400.5:n.283-41T>C
ENST00000493984.6:n.551-41T>C
NM_000050.4:c.774-41T>C	NP_000041.2:n.774-41T>C
NM_054012.3:c.774-41T>C	NP_446464.1:n.774-41T>C
XM_005272200.2:c.774-41T>C	XP_005272257.1:n.774-41T>C
XM_011518705.1:c.888-41T>C	XP_011517007.1:n.888-41T>C
XM_005272200.3:c.774-41T>C	XP_005272257.1:n.774-41T>C
XM_011518705.2:c.888-41T>C	XP_011517007.1:n.888-41T>C
XM_017014729.1:c.870-41T>C	XP_016870218.1:n.870-41T>C
NM_054012.4:c.774-41T>C MANE Select	NP_446464.1:n.774-41T>C