Canonical Allele Identifier: CA375230849
Gene: ASS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489458T>A , CM000671.2:g.130489458T>A GRCh38
NC_000009.11:g.133364845T>A , CM000671.1:g.133364845T>A GRCh37
NC_000009.10:g.132354666T>A NCBI36
NG_011542.1:g.49752T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.964T>A MANE Select ENSP00000253004.6:p.Tyr322Asn
ENST00000352480.9:c.964T>A ENSP00000253004.6:p.Tyr322Asn
ENST00000372386.6:n.235T>A
ENST00000372393.7:c.964T>A ENSP00000361469.2:p.Tyr322Asn
ENST00000372394.5:c.964T>A ENSP00000361471.1:p.Tyr322Asn
NM_000050.4:c.964T>A NP_000041.2:p.Tyr322Asn
NM_054012.3:c.964T>A NP_446464.1:p.Tyr322Asn
XM_005272200.2:c.964T>A XP_005272257.1:p.Tyr322Asn
XM_011518705.1:c.1078T>A XP_011517007.1:p.Tyr360Asn
XM_005272200.3:c.964T>A XP_005272257.1:p.Tyr322Asn
XM_011518705.2:c.1078T>A XP_011517007.1:p.Tyr360Asn
XM_017014729.1:c.1060T>A XP_016870218.1:p.Tyr354Asn
NM_054012.4:c.964T>A MANE Select NP_446464.1:p.Tyr322Asn