Canonical Allele Identifier: CA266756
Gene: ASS1 HGNC NCBI
ClinVar RCV:
RCV000078027
RCV000723467
RCV001290025
ClinVar Variation:
92375
dbSNP:
371265106
gnomAD v2:
9:133355834 G / A
gnomAD v3:
9:130480447 G / A
gnomAD v4:
chr9-130480447-G-A
Joint Max Group AF 0.00005434 (AMR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00005806 (AMR)
MyVariant.info:
GRCh38 chr9:g.130480447G>A
GRCh37 chr9:g.133355834G>A
Revel Score:
ENST00000334909 0.966
ENST00000352480 (MANE Select) 0.966
ENST00000372394 0.966
ENST00000372393 0.966
ENST00000372386 0.966
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480447G>A , CM000671.2:g.130480447G>A GRCh38
NC_000009.11:g.133355834G>A , CM000671.1:g.133355834G>A GRCh37
NC_000009.10:g.132345655G>A NCBI36
NG_011542.1:g.40741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.836G>A MANE Select ENSP00000253004.6:p.Arg279Gln
ENST00000352480.9:c.836G>A ENSP00000253004.6:p.Arg279Gln
ENST00000372386.6:n.107G>A
ENST00000372393.7:c.836G>A ENSP00000361469.2:p.Arg279Gln
ENST00000372394.5:c.836G>A ENSP00000361471.1:p.Arg279Gln
ENST00000470849.4:n.561G>A
ENST00000492400.5:n.345G>A
ENST00000493984.6:n.613G>A
NM_000050.4:c.836G>A NP_000041.2:p.Arg279Gln
NM_054012.3:c.836G>A NP_446464.1:p.Arg279Gln
XM_005272200.2:c.836G>A XP_005272257.1:p.Arg279Gln
XM_011518705.1:c.950G>A XP_011517007.1:p.Arg317Gln
XM_005272200.3:c.836G>A XP_005272257.1:p.Arg279Gln
XM_011518705.2:c.950G>A XP_011517007.1:p.Arg317Gln
XM_017014729.1:c.932G>A XP_016870218.1:p.Arg311Gln
NM_054012.4:c.836G>A MANE Select NP_446464.1:p.Arg279Gln
Search 100 bp 5'
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