Canonical Allele Identifier: CA5283575
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365260
dbSNP Id: rs199751308

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489423A>G , CM000671.2:g.130489423A>G GRCh38
NC_000009.11:g.133364810A>G , CM000671.1:g.133364810A>G GRCh37
NC_000009.10:g.132354631A>G NCBI36
NG_011542.1:g.49717A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.929A>G MANE Select ENSP00000253004.6:p.Lys310Arg
ENST00000352480.9:c.929A>G ENSP00000253004.6:p.Lys310Arg
ENST00000372386.6:n.200A>G
ENST00000372393.7:c.929A>G ENSP00000361469.2:p.Lys310Arg
ENST00000372394.5:c.929A>G ENSP00000361471.1:p.Lys310Arg
ENST00000492400.5:n.438A>G
NM_000050.4:c.929A>G NP_000041.2:p.Lys310Arg
NM_054012.3:c.929A>G NP_446464.1:p.Lys310Arg
XM_005272200.2:c.929A>G XP_005272257.1:p.Lys310Arg
XM_011518705.1:c.1043A>G XP_011517007.1:p.Lys348Arg
XM_005272200.3:c.929A>G XP_005272257.1:p.Lys310Arg
XM_011518705.2:c.1043A>G XP_011517007.1:p.Lys348Arg
XM_017014729.1:c.1025A>G XP_016870218.1:p.Lys342Arg
NM_054012.4:c.929A>G MANE Select NP_446464.1:p.Lys310Arg