Canonical Allele Identifier: CA5283371

Gene: ASS1

Linked Data

• dbSNP Id: rs747575810
• ExAC: 9:133346881 T / C
• gnomAD v2: 9-133346881-T-C
• gnomAD v4: 9-130471494-T-C
• MyVariant Identifiers: chr9:g.133346881T>C (hg19) ; chr9:g.130471494T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471494T>C , CM000671.2:g.130471494T>C	GRCh38
NC_000009.11:g.133346881T>C , CM000671.1:g.133346881T>C	GRCh37
NC_000009.10:g.132336702T>C	NCBI36
NG_011542.1:g.31788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.576T>C MANE Select	ENSP00000253004.6:p.Ala192=
ENST00000352480.9:c.576T>C	ENSP00000253004.6:p.Ala192=
ENST00000372393.7:c.576T>C	ENSP00000361469.2:p.Ala192=
ENST00000372394.5:c.576T>C	ENSP00000361471.1:p.Ala192=
ENST00000422569.5:c.576T>C	ENSP00000394212.1:p.Ala192=
ENST00000443588.1:c.519T>C	ENSP00000397785.1:p.Ala173=
ENST00000467695.5:n.285T>C
ENST00000493984.6:n.407T>C
NM_000050.4:c.576T>C	NP_000041.2:p.Ala192=
NM_054012.3:c.576T>C	NP_446464.1:p.Ala192=
XM_005272200.2:c.576T>C	XP_005272257.1:p.Ala192=
XM_011518705.1:c.690T>C	XP_011517007.1:p.Ala230=
XM_005272200.3:c.576T>C	XP_005272257.1:p.Ala192=
XM_011518705.2:c.690T>C	XP_011517007.1:p.Ala230=
XM_017014729.1:c.672T>C	XP_016870218.1:p.Ala224=
NM_054012.4:c.576T>C MANE Select	NP_446464.1:p.Ala192=