Canonical Allele Identifier: CA16041300
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370237
ClinVar RCV Id: RCV000409826
dbSNP Id: rs1057516339

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130464159C>T , CM000671.2:g.130464159C>T GRCh38
NC_000009.11:g.133339546C>T , CM000671.1:g.133339546C>T GRCh37
NC_000009.10:g.132329367C>T NCBI36
NG_011542.1:g.24453C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.412C>T MANE Select ENSP00000253004.6:p.Gln138Ter
ENST00000352480.9:c.412C>T ENSP00000253004.6:p.Gln138Ter
ENST00000372393.7:c.412C>T ENSP00000361469.2:p.Gln138Ter
ENST00000372394.5:c.412C>T ENSP00000361471.1:p.Gln138Ter
ENST00000422569.5:c.412C>T ENSP00000394212.1:p.Gln138Ter
ENST00000443588.1:c.364-2566C>T ENSP00000397785.1:n.364-2566C>T
ENST00000467695.5:n.121C>T
NM_000050.4:c.412C>T NP_000041.2:p.Gln138Ter
NM_054012.3:c.412C>T NP_446464.1:p.Gln138Ter
XM_005272200.2:c.412C>T XP_005272257.1:p.Gln138Ter
XM_011518705.1:c.526C>T XP_011517007.1:p.Gln176Ter
XM_005272200.3:c.412C>T XP_005272257.1:p.Gln138Ter
XM_011518705.2:c.526C>T XP_011517007.1:p.Gln176Ter
XM_017014729.1:c.508C>T XP_016870218.1:p.Gln170Ter
NM_054012.4:c.412C>T MANE Select NP_446464.1:p.Gln138Ter