Canonical Allele Identifier: CA5283585
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265962
dbSNP Id: rs372128852

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489469G>A , CM000671.2:g.130489469G>A GRCh38
NC_000009.11:g.133364856G>A , CM000671.1:g.133364856G>A GRCh37
NC_000009.10:g.132354677G>A NCBI36
NG_011542.1:g.49763G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.970+5G>A MANE Select ENSP00000253004.6:p.=
ENST00000352480.9:c.970+5G>A ENSP00000253004.6:p.=
ENST00000372386.6:n.241+5G>A
ENST00000372393.7:c.970+5G>A ENSP00000361469.2:p.=
ENST00000372394.5:c.970+5G>A ENSP00000361471.1:p.=
NM_000050.4:c.970+5G>A NP_000041.2:p.=
NM_054012.3:c.970+5G>A NP_446464.1:p.=
XM_005272200.2:c.970+5G>A XP_005272257.1:p.=
XM_011518705.1:c.1084+5G>A XP_011517007.1:p.=
XM_005272200.3:c.970+5G>A XP_005272257.1:p.=
XM_011518705.2:c.1084+5G>A XP_011517007.1:p.=
XM_017014729.1:c.1066+5G>A XP_016870218.1:p.=
NM_054012.4:c.970+5G>A MANE Select NP_446464.1:p.=