Canonical Allele Identifier: CA253837
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130458482C>T
GRCh37 chr9:g.133333869C>T
Revel Score:
ENST00000334909 0.827
ENST00000352480 (MANE Select) 0.827
ENST00000372394 0.827
ENST00000372393 0.827
ENST00000422569 0.827
ENST00000443588 0.827
gnomAD v2:
9:133333869 C / T
gnomAD v3:
9:130458482 C / T
gnomAD v4:
chr9-130458482-C-T
Joint Max Group AF 0.00005435 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00007282 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130458482C>T , CM000671.2:g.130458482C>T GRCh38
NC_000009.11:g.133333869C>T , CM000671.1:g.133333869C>T GRCh37
NC_000009.10:g.132323690C>T NCBI36
NG_011542.1:g.18776C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.256C>T MANE Select ENSP00000253004.6:p.Arg86Cys
ENST00000352480.9:c.256C>T ENSP00000253004.6:p.Arg86Cys
ENST00000372393.7:c.256C>T ENSP00000361469.2:p.Arg86Cys
ENST00000372394.5:c.256C>T ENSP00000361471.1:p.Arg86Cys
ENST00000422569.5:c.256C>T ENSP00000394212.1:p.Arg86Cys
ENST00000443588.1:c.256C>T ENSP00000397785.1:p.Arg86Cys
NM_000050.4:c.256C>T NP_000041.2:p.Arg86Cys
NM_054012.3:c.256C>T NP_446464.1:p.Arg86Cys
XM_005272200.2:c.256C>T XP_005272257.1:p.Arg86Cys
XM_011518705.1:c.370C>T XP_011517007.1:p.Arg124Cys
XM_005272200.3:c.256C>T XP_005272257.1:p.Arg86Cys
XM_011518705.2:c.370C>T XP_011517007.1:p.Arg124Cys
XM_017014729.1:c.352C>T XP_016870218.1:p.Arg118Cys
NM_054012.4:c.256C>T MANE Select NP_446464.1:p.Arg86Cys
Search 100 bp 5'
Search 100 bp 3'