Canonical Allele Identifier: CA312360

Gene: ASS1

Linked Data

• ClinVar Variation Id: 203636
• ClinVar RCV Id: RCV000185794 ; RCV002228804
• dbSNP Id: rs796051936
• MyVariant Identifiers: chr9:g.133346889T>C (hg19) ; chr9:g.130471502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471502T>C , CM000671.2:g.130471502T>C	GRCh38
NC_000009.11:g.133346889T>C , CM000671.1:g.133346889T>C	GRCh37
NC_000009.10:g.132336710T>C	NCBI36
NG_011542.1:g.31796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.584T>C MANE Select	ENSP00000253004.6:p.Leu195Pro
ENST00000352480.9:c.584T>C	ENSP00000253004.6:p.Leu195Pro
ENST00000372393.7:c.584T>C	ENSP00000361469.2:p.Leu195Pro
ENST00000372394.5:c.584T>C	ENSP00000361471.1:p.Leu195Pro
ENST00000422569.5:c.584T>C	ENSP00000394212.1:p.Leu195Pro
ENST00000443588.1:c.527T>C	ENSP00000397785.1:p.Leu176Pro
ENST00000467695.5:n.293T>C
ENST00000493984.6:n.415T>C
NM_000050.4:c.584T>C	NP_000041.2:p.Leu195Pro
NM_054012.3:c.584T>C	NP_446464.1:p.Leu195Pro
XM_005272200.2:c.584T>C	XP_005272257.1:p.Leu195Pro
XM_011518705.1:c.698T>C	XP_011517007.1:p.Leu233Pro
XM_005272200.3:c.584T>C	XP_005272257.1:p.Leu195Pro
XM_011518705.2:c.698T>C	XP_011517007.1:p.Leu233Pro
XM_017014729.1:c.680T>C	XP_016870218.1:p.Leu227Pro
NM_054012.4:c.584T>C MANE Select	NP_446464.1:p.Leu195Pro