Canonical Allele Identifier: CA253832
Gene: ASS1 HGNC NCBI
BRCA Exchange:
Summary View CA2538326097
Pop AF ACMG Code (provisional) No code met (read depth, flags)
COSMIC:
COSM6457442
COSM6457443
MyVariant.info:
GRCh38 chr9:g.130489464G>A
GRCh37 chr9:g.133364851G>A
Revel Score:
ENST00000334909 0.970
ENST00000352480 (MANE Select) 0.970
ENST00000372394 0.970
ENST00000372393 0.970
ENST00000372386 0.970
gnomAD v2:
9:133364851 G / A
gnomAD v3:
9:130489464 G / A
gnomAD v4:
chr9-130489464-G-A
Joint Max Group AF 0.00004535 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00005805 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489464G>A , CM000671.2:g.130489464G>A GRCh38
NC_000009.11:g.133364851G>A , CM000671.1:g.133364851G>A GRCh37
NC_000009.10:g.132354672G>A NCBI36
NG_011542.1:g.49758G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.970G>A MANE Select ENSP00000253004.6:p.Gly324Ser
ENST00000352480.9:c.970G>A ENSP00000253004.6:p.Gly324Ser
ENST00000372386.6:n.241G>A
ENST00000372393.7:c.970G>A ENSP00000361469.2:p.Gly324Ser
ENST00000372394.5:c.970G>A ENSP00000361471.1:p.Gly324Ser
NM_000050.4:c.970G>A NP_000041.2:p.Gly324Ser
NM_054012.3:c.970G>A NP_446464.1:p.Gly324Ser
XM_005272200.2:c.970G>A XP_005272257.1:p.Gly324Ser
XM_011518705.1:c.1084G>A XP_011517007.1:p.Gly362Ser
XM_005272200.3:c.970G>A XP_005272257.1:p.Gly324Ser
XM_011518705.2:c.1084G>A XP_011517007.1:p.Gly362Ser
XM_017014729.1:c.1066G>A XP_016870218.1:p.Gly356Ser
NM_054012.4:c.970G>A MANE Select NP_446464.1:p.Gly324Ser
Search 100 bp 5'
Search 100 bp 3'