Canonical Allele Identifier: CA253836
Gene: ASS1 HGNC NCBI
ClinVar RCV:
RCV000006703
RCV002512847
ClinVar Variation:
6331
dbSNP:
121908643
gnomAD v2:
9:133327668 C / T
gnomAD v3:
9:130452281 C / T
gnomAD v4:
chr9-130452281-C-T
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00000132 (NFE)
MyVariant.info:
GRCh38 chr9:g.130452281C>T
GRCh37 chr9:g.133327668C>T
Revel Score:
ENST00000334909 0.979
ENST00000352480 (MANE Select) 0.979
ENST00000372394 0.979
ENST00000372393 0.979
ENST00000422569 0.979
ENST00000443588 0.979
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130452281C>T , CM000671.2:g.130452281C>T GRCh38
NC_000009.11:g.133327668C>T , CM000671.1:g.133327668C>T GRCh37
NC_000009.10:g.132317489C>T NCBI36
NG_011542.1:g.12575C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.53C>T MANE Select ENSP00000253004.6:p.Ser18Leu
ENST00000352480.9:c.53C>T ENSP00000253004.6:p.Ser18Leu
ENST00000372393.7:c.53C>T ENSP00000361469.2:p.Ser18Leu
ENST00000372394.5:c.53C>T ENSP00000361471.1:p.Ser18Leu
ENST00000422569.5:c.53C>T ENSP00000394212.1:p.Ser18Leu
ENST00000443588.1:c.53C>T ENSP00000397785.1:p.Ser18Leu
NM_000050.4:c.53C>T NP_000041.2:p.Ser18Leu
NM_054012.3:c.53C>T NP_446464.1:p.Ser18Leu
XM_005272200.2:c.53C>T XP_005272257.1:p.Ser18Leu
XM_011518705.1:c.167C>T XP_011517007.1:p.Ser56Leu
XM_005272200.3:c.53C>T XP_005272257.1:p.Ser18Leu
XM_011518705.2:c.167C>T XP_011517007.1:p.Ser56Leu
XM_017014729.1:c.149C>T XP_016870218.1:p.Ser50Leu
NM_054012.4:c.53C>T MANE Select NP_446464.1:p.Ser18Leu
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