Canonical Allele Identifier: CA253841
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130489422A>C
GRCh37 chr9:g.133364809A>C
Revel Score:
ENST00000334909 0.980
ENST00000352480 (MANE Select) 0.980
ENST00000372394 0.980
ENST00000372393 0.980
ENST00000372386 0.980
gnomAD v2:
9:133364809 A / C
gnomAD v4:
chr9-130489422-A-C
Joint Max Group AF 0.00000763 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar RCV:
RCV000006711
RCV002512848
ClinVar Variation:
6339
dbSNP:
121908648
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489422A>C , CM000671.2:g.130489422A>C GRCh38
NC_000009.11:g.133364809A>C , CM000671.1:g.133364809A>C GRCh37
NC_000009.10:g.132354630A>C NCBI36
NG_011542.1:g.49716A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.928A>C MANE Select ENSP00000253004.6:p.Lys310Gln
ENST00000352480.9:c.928A>C ENSP00000253004.6:p.Lys310Gln
ENST00000372386.6:n.199A>C
ENST00000372393.7:c.928A>C ENSP00000361469.2:p.Lys310Gln
ENST00000372394.5:c.928A>C ENSP00000361471.1:p.Lys310Gln
ENST00000492400.5:n.437A>C
NM_000050.4:c.928A>C NP_000041.2:p.Lys310Gln
NM_054012.3:c.928A>C NP_446464.1:p.Lys310Gln
XM_005272200.2:c.928A>C XP_005272257.1:p.Lys310Gln
XM_011518705.1:c.1042A>C XP_011517007.1:p.Lys348Gln
XM_005272200.3:c.928A>C XP_005272257.1:p.Lys310Gln
XM_011518705.2:c.1042A>C XP_011517007.1:p.Lys348Gln
XM_017014729.1:c.1024A>C XP_016870218.1:p.Lys342Gln
NM_054012.4:c.928A>C MANE Select NP_446464.1:p.Lys310Gln
Search 100 bp 5'
Search 100 bp 3'