Canonical Allele Identifier: CA467385719
Gene: ASS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133364823C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489436C>A , CM000671.2:g.130489436C>A GRCh38
NC_000009.11:g.133364823C>A , CM000671.1:g.133364823C>A GRCh37
NC_000009.10:g.132354644C>A NCBI36
NG_011542.1:g.49730C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.942C>A MANE Select ENSP00000253004.6:p.Gly314=
ENST00000352480.9:c.942C>A ENSP00000253004.6:p.Gly314=
ENST00000372386.6:n.213C>A
ENST00000372393.7:c.942C>A ENSP00000361469.2:p.Gly314=
ENST00000372394.5:c.942C>A ENSP00000361471.1:p.Gly314=
NM_000050.4:c.942C>A NP_000041.2:p.Gly314=
NM_054012.3:c.942C>A NP_446464.1:p.Gly314=
XM_005272200.2:c.942C>A XP_005272257.1:p.Gly314=
XM_011518705.1:c.1056C>A XP_011517007.1:p.Gly352=
XM_005272200.3:c.942C>A XP_005272257.1:p.Gly314=
XM_011518705.2:c.1056C>A XP_011517007.1:p.Gly352=
XM_017014729.1:c.1038C>A XP_016870218.1:p.Gly346=
NM_054012.4:c.942C>A MANE Select NP_446464.1:p.Gly314=