Canonical Allele Identifier: CA200612215
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130464117G>A
GRCh37 chr9:g.133339504G>A
Revel Score:
ENST00000334909 0.919
ENST00000352480 (MANE Select) 0.919
ENST00000372394 0.919
ENST00000372393 0.919
ENST00000422569 0.919
gnomAD v2:
9:133339504 G / A
gnomAD v3:
9:130464117 G / A
gnomAD v4:
chr9-130464117-G-A
Joint Max Group AF 0.00005937 (SAS)
Genomes Max Group AF 0.00007304 (SAS)
Exomes Max Group AF 0.00006094 (MID)
ClinVar RCV:
RCV000552381
RCV001783037
ClinVar Variation:
458673
dbSNP:
936192871
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130464117G>A , CM000671.2:g.130464117G>A GRCh38
NC_000009.11:g.133339504G>A , CM000671.1:g.133339504G>A GRCh37
NC_000009.10:g.132329325G>A NCBI36
NG_011542.1:g.24411G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.370G>A MANE Select ENSP00000253004.6:p.Asp124Asn
ENST00000352480.9:c.370G>A ENSP00000253004.6:p.Asp124Asn
ENST00000372393.7:c.370G>A ENSP00000361469.2:p.Asp124Asn
ENST00000372394.5:c.370G>A ENSP00000361471.1:p.Asp124Asn
ENST00000422569.5:c.370G>A ENSP00000394212.1:p.Asp124Asn
ENST00000443588.1:c.364-2608G>A ENSP00000397785.1:n.364-2608G>A
ENST00000467695.5:n.79G>A
NM_000050.4:c.370G>A NP_000041.2:p.Asp124Asn
NM_054012.3:c.370G>A NP_446464.1:p.Asp124Asn
XM_005272200.2:c.370G>A XP_005272257.1:p.Asp124Asn
XM_011518705.1:c.484G>A XP_011517007.1:p.Asp162Asn
XM_005272200.3:c.370G>A XP_005272257.1:p.Asp124Asn
XM_011518705.2:c.484G>A XP_011517007.1:p.Asp162Asn
XM_017014729.1:c.466G>A XP_016870218.1:p.Asp156Asn
NM_054012.4:c.370G>A MANE Select NP_446464.1:p.Asp124Asn
Search 100 bp 5'
Search 100 bp 3'