Canonical Allele Identifier: CA5283615
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130494911G>A
GRCh37 chr9:g.133370298G>A
Revel Score:
ENST00000334909 0.338
ENST00000352480 (MANE Select) 0.338
ENST00000372394 0.338
ENST00000372393 0.338
ENST00000372386 0.338
gnomAD v2:
9:133370298 G / A
gnomAD v3:
9:130494911 G / A
gnomAD v4:
chr9-130494911-G-A
Joint Max Group AF 0.00037383 (AMR)
Genomes Max Group AF 0.00031674 (NFE)
Exomes Max Group AF 0.00046303 (AMR)
ClinVar RCV:
RCV000377584
RCV001391333
ClinVar Variation:
365262
dbSNP:
145100866
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130494911G>A , CM000671.2:g.130494911G>A GRCh38
NC_000009.11:g.133370298G>A , CM000671.1:g.133370298G>A GRCh37
NC_000009.10:g.132360119G>A NCBI36
NG_011542.1:g.55205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.1015G>A MANE Select ENSP00000253004.6:p.Ala339Thr
ENST00000352480.9:c.1015G>A ENSP00000253004.6:p.Ala339Thr
ENST00000372386.6:n.286G>A
ENST00000372393.7:c.1015G>A ENSP00000361469.2:p.Ala339Thr
ENST00000372394.5:c.1015G>A ENSP00000361471.1:p.Ala339Thr
NM_000050.4:c.1015G>A NP_000041.2:p.Ala339Thr
NM_054012.3:c.1015G>A NP_446464.1:p.Ala339Thr
XM_005272200.2:c.1015G>A XP_005272257.1:p.Ala339Thr
XM_011518705.1:c.1129G>A XP_011517007.1:p.Ala377Thr
XR_930393.1:n.1060-2654C>T
XM_005272200.3:c.1015G>A XP_005272257.1:p.Ala339Thr
XM_011518705.2:c.1129G>A XP_011517007.1:p.Ala377Thr
XM_017014729.1:c.1111G>A XP_016870218.1:p.Ala371Thr
XR_930393.2:n.1102-2654C>T
NM_054012.4:c.1015G>A MANE Select NP_446464.1:p.Ala339Thr
Search 100 bp 5'
Search 100 bp 3'