Canonical Allele Identifier: CA253829
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6324
dbSNP Id: rs121908636

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130452268G>A , CM000671.2:g.130452268G>A GRCh38
NC_000009.11:g.133327655G>A , CM000671.1:g.133327655G>A GRCh37
NC_000009.10:g.132317476G>A NCBI36
NG_011542.1:g.12562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.40G>A MANE Select ENSP00000253004.6:p.Gly14Ser
ENST00000352480.9:c.40G>A ENSP00000253004.6:p.Gly14Ser
ENST00000372393.7:c.40G>A ENSP00000361469.2:p.Gly14Ser
ENST00000372394.5:c.40G>A ENSP00000361471.1:p.Gly14Ser
ENST00000422569.5:c.40G>A ENSP00000394212.1:p.Gly14Ser
ENST00000443588.1:c.40G>A ENSP00000397785.1:p.Gly14Ser
NM_000050.4:c.40G>A NP_000041.2:p.Gly14Ser
NM_054012.3:c.40G>A NP_446464.1:p.Gly14Ser
XM_005272200.2:c.40G>A XP_005272257.1:p.Gly14Ser
XM_011518705.1:c.154G>A XP_011517007.1:p.Gly52Ser
XM_005272200.3:c.40G>A XP_005272257.1:p.Gly14Ser
XM_011518705.2:c.154G>A XP_011517007.1:p.Gly52Ser
XM_017014729.1:c.136G>A XP_016870218.1:p.Gly46Ser
NM_054012.4:c.40G>A MANE Select NP_446464.1:p.Gly14Ser