Canonical Allele Identifier: CA1881252657
Community Standard Title: NM_054012.4(ASS1):c.412C= (p.Gln138=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.412C= MANE Select NP_446464.1:p.Gln138=
ENST00000352480.10:c.412C= MANE Select ENSP00000253004.6:p.Gln138=
NM_000050.4:c.412C= NP_000041.2:p.Gln138=
NM_054012.3:c.412C= NP_446464.1:p.Gln138=
ENST00000352480.9:c.412C= ENSP00000253004.6:p.Gln138=
ENST00000372393.7:c.412C= ENSP00000361469.2:p.Gln138=
ENST00000372394.5:c.412C= ENSP00000361471.1:p.Gln138=
ENST00000422569.5:c.412C= ENSP00000394212.1:p.Gln138=
ENST00000443588.1:c.364-2566C= ENSP00000397785.1:n.364-2566C=
ENST00000467695.5:n.121C=
XM_005272200.2:c.412C= XP_005272257.1:p.Gln138=
XM_005272200.3:c.412C= XP_005272257.1:p.Gln138=
XM_011518705.1:c.526C= XP_011517007.1:p.Gln176=
XM_011518705.2:c.526C= XP_011517007.1:p.Gln176=
XM_017014729.1:c.508C= XP_016870218.1:p.Gln170=