Canonical Allele Identifier: CA275932
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130471489G>A
GRCh37 chr9:g.133346876G>A
Revel Score:
ENST00000334909 0.973
ENST00000352480 (MANE Select) 0.973
ENST00000372394 0.973
ENST00000372393 0.973
ENST00000422569 0.973
ENST00000443588 0.973
gnomAD v2:
9:133346876 G / A
gnomAD v3:
9:130471489 G / A
gnomAD v4:
chr9-130471489-G-A
Joint Max Group AF 0.00005279 (AFR)
Genomes Max Group AF 0.00003249 (AFR)
Exomes Max Group AF 0.00003982 (AFR)
ClinVar RCV:
RCV000190357
RCV001376580
ClinVar Variation:
208153
dbSNP:
777828000
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130471489G>A , CM000671.2:g.130471489G>A GRCh38
NC_000009.11:g.133346876G>A , CM000671.1:g.133346876G>A GRCh37
NC_000009.10:g.132336697G>A NCBI36
NG_011542.1:g.31783G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.571G>A MANE Select ENSP00000253004.6:p.Glu191Lys
ENST00000352480.9:c.571G>A ENSP00000253004.6:p.Glu191Lys
ENST00000372393.7:c.571G>A ENSP00000361469.2:p.Glu191Lys
ENST00000372394.5:c.571G>A ENSP00000361471.1:p.Glu191Lys
ENST00000422569.5:c.571G>A ENSP00000394212.1:p.Glu191Lys
ENST00000443588.1:c.514G>A ENSP00000397785.1:p.Glu172Lys
ENST00000467695.5:n.280G>A
ENST00000493984.6:n.402G>A
NM_000050.4:c.571G>A NP_000041.2:p.Glu191Lys
NM_054012.3:c.571G>A NP_446464.1:p.Glu191Lys
XM_005272200.2:c.571G>A XP_005272257.1:p.Glu191Lys
XM_011518705.1:c.685G>A XP_011517007.1:p.Glu229Lys
XM_005272200.3:c.571G>A XP_005272257.1:p.Glu191Lys
XM_011518705.2:c.685G>A XP_011517007.1:p.Glu229Lys
XM_017014729.1:c.667G>A XP_016870218.1:p.Glu223Lys
NM_054012.4:c.571G>A MANE Select NP_446464.1:p.Glu191Lys
Search 100 bp 5'
Search 100 bp 3'