Canonical Allele Identifier: CA5283620
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130494949G>A
GRCh37 chr9:g.133370336G>A
gnomAD v2:
9:133370336 G / A
gnomAD v4:
chr9-130494949-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
307090
ClinVar RCV:
RCV000290227
RCV002058779
ClinVar Variation:
365263
dbSNP:
761241799
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130494949G>A , CM000671.2:g.130494949G>A GRCh38
NC_000009.11:g.133370336G>A , CM000671.1:g.133370336G>A GRCh37
NC_000009.10:g.132360157G>A NCBI36
NG_011542.1:g.55243G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.1053G>A MANE Select ENSP00000253004.6:p.Val351=
ENST00000352480.9:c.1053G>A ENSP00000253004.6:p.Val351=
ENST00000372386.6:n.324G>A
ENST00000372393.7:c.1053G>A ENSP00000361469.2:p.Val351=
ENST00000372394.5:c.1053G>A ENSP00000361471.1:p.Val351=
NM_000050.4:c.1053G>A NP_000041.2:p.Val351=
NM_054012.3:c.1053G>A NP_446464.1:p.Val351=
XM_005272200.2:c.1053G>A XP_005272257.1:p.Val351=
XM_011518705.1:c.1167G>A XP_011517007.1:p.Val389=
XR_930393.1:n.1060-2692C>T
XM_005272200.3:c.1053G>A XP_005272257.1:p.Val351=
XM_011518705.2:c.1167G>A XP_011517007.1:p.Val389=
XM_017014729.1:c.1149G>A XP_016870218.1:p.Val383=
XR_930393.2:n.1102-2692C>T
NM_054012.4:c.1053G>A MANE Select NP_446464.1:p.Val351=
Search 100 bp 5'
Search 100 bp 3'