Canonical Allele Identifier: CA285302

Gene: ASS1

Linked Data

• ClinVar Variation Id: 92376
• ClinVar RCV Id: RCV000078028 ; RCV000378731 ; RCV001521746
• dbSNP Id: rs1057484
• ExAC: 9:133364757 T / C
• gnomAD v2: 9-133364757-T-C
• gnomAD v3: 9-130489370-T-C
• gnomAD v4: 9-130489370-T-C
• MyVariant Identifiers: chr9:g.133364757T>C (hg19) ; chr9:g.130489370T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489370T>C , CM000671.2:g.130489370T>C	GRCh38
NC_000009.11:g.133364757T>C , CM000671.1:g.133364757T>C	GRCh37
NC_000009.10:g.132354578T>C	NCBI36
NG_011542.1:g.49664T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.876T>C MANE Select	ENSP00000253004.6:p.His292=
ENST00000352480.9:c.876T>C	ENSP00000253004.6:p.His292=
ENST00000372386.6:n.147T>C
ENST00000372393.7:c.876T>C	ENSP00000361469.2:p.His292=
ENST00000372394.5:c.876T>C	ENSP00000361471.1:p.His292=
ENST00000470849.4:n.601T>C
ENST00000492400.5:n.385T>C
ENST00000493984.6:n.653T>C
NM_000050.4:c.876T>C	NP_000041.2:p.His292=
NM_054012.3:c.876T>C	NP_446464.1:p.His292=
XM_005272200.2:c.876T>C	XP_005272257.1:p.His292=
XM_011518705.1:c.990T>C	XP_011517007.1:p.His330=
XM_005272200.3:c.876T>C	XP_005272257.1:p.His292=
XM_011518705.2:c.990T>C	XP_011517007.1:p.His330=
XM_017014729.1:c.972T>C	XP_016870218.1:p.His324=
NM_054012.4:c.876T>C MANE Select	NP_446464.1:p.His292=