Canonical Allele Identifier: CA375230838
Gene: ASS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489456T>A , CM000671.2:g.130489456T>A GRCh38
NC_000009.11:g.133364843T>A , CM000671.1:g.133364843T>A GRCh37
NC_000009.10:g.132354664T>A NCBI36
NG_011542.1:g.49750T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.962T>A MANE Select ENSP00000253004.6:p.Val321Glu
ENST00000352480.9:c.962T>A ENSP00000253004.6:p.Val321Glu
ENST00000372386.6:n.233T>A
ENST00000372393.7:c.962T>A ENSP00000361469.2:p.Val321Glu
ENST00000372394.5:c.962T>A ENSP00000361471.1:p.Val321Glu
NM_000050.4:c.962T>A NP_000041.2:p.Val321Glu
NM_054012.3:c.962T>A NP_446464.1:p.Val321Glu
XM_005272200.2:c.962T>A XP_005272257.1:p.Val321Glu
XM_011518705.1:c.1076T>A XP_011517007.1:p.Val359Glu
XM_005272200.3:c.962T>A XP_005272257.1:p.Val321Glu
XM_011518705.2:c.1076T>A XP_011517007.1:p.Val359Glu
XM_017014729.1:c.1058T>A XP_016870218.1:p.Val353Glu
NM_054012.4:c.962T>A MANE Select NP_446464.1:p.Val321Glu