Canonical Allele Identifier: CA253829
Gene: ASS1 HGNC NCBI
ClinVar RCV:
RCV000006696
RCV001376548
ClinVar Variation:
6324
COSMIC:
COSM4954903
dbSNP:
121908636
gnomAD v2:
9:133327655 G / A
gnomAD v3:
9:130452268 G / A
gnomAD v4:
chr9-130452268-G-A
Joint Max Group AF 0.00002255 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
MyVariant.info:
GRCh38 chr9:g.130452268G>A
GRCh37 chr9:g.133327655G>A
Revel Score:
ENST00000334909 0.967
ENST00000352480 (MANE Select) 0.967
ENST00000372394 0.967
ENST00000372393 0.967
ENST00000422569 0.967
ENST00000443588 0.967
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130452268G>A , CM000671.2:g.130452268G>A GRCh38
NC_000009.11:g.133327655G>A , CM000671.1:g.133327655G>A GRCh37
NC_000009.10:g.132317476G>A NCBI36
NG_011542.1:g.12562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.40G>A MANE Select ENSP00000253004.6:p.Gly14Ser
ENST00000352480.9:c.40G>A ENSP00000253004.6:p.Gly14Ser
ENST00000372393.7:c.40G>A ENSP00000361469.2:p.Gly14Ser
ENST00000372394.5:c.40G>A ENSP00000361471.1:p.Gly14Ser
ENST00000422569.5:c.40G>A ENSP00000394212.1:p.Gly14Ser
ENST00000443588.1:c.40G>A ENSP00000397785.1:p.Gly14Ser
NM_000050.4:c.40G>A NP_000041.2:p.Gly14Ser
NM_054012.3:c.40G>A NP_446464.1:p.Gly14Ser
XM_005272200.2:c.40G>A XP_005272257.1:p.Gly14Ser
XM_011518705.1:c.154G>A XP_011517007.1:p.Gly52Ser
XM_005272200.3:c.40G>A XP_005272257.1:p.Gly14Ser
XM_011518705.2:c.154G>A XP_011517007.1:p.Gly52Ser
XM_017014729.1:c.136G>A XP_016870218.1:p.Gly46Ser
NM_054012.4:c.40G>A MANE Select NP_446464.1:p.Gly14Ser
Search 100 bp 5'
Search 100 bp 3'