Canonical Allele Identifier: CA467384945
Gene: ASS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133355829G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480442G>A , CM000671.2:g.130480442G>A GRCh38
NC_000009.11:g.133355829G>A , CM000671.1:g.133355829G>A GRCh37
NC_000009.10:g.132345650G>A NCBI36
NG_011542.1:g.40736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.831G>A MANE Select ENSP00000253004.6:p.Lys277=
ENST00000352480.9:c.831G>A ENSP00000253004.6:p.Lys277=
ENST00000372386.6:n.102G>A
ENST00000372393.7:c.831G>A ENSP00000361469.2:p.Lys277=
ENST00000372394.5:c.831G>A ENSP00000361471.1:p.Lys277=
ENST00000470849.4:n.556G>A
ENST00000492400.5:n.340G>A
ENST00000493984.6:n.608G>A
NM_000050.4:c.831G>A NP_000041.2:p.Lys277=
NM_054012.3:c.831G>A NP_446464.1:p.Lys277=
XM_005272200.2:c.831G>A XP_005272257.1:p.Lys277=
XM_011518705.1:c.945G>A XP_011517007.1:p.Lys315=
XM_005272200.3:c.831G>A XP_005272257.1:p.Lys277=
XM_011518705.2:c.945G>A XP_011517007.1:p.Lys315=
XM_017014729.1:c.927G>A XP_016870218.1:p.Lys309=
NM_054012.4:c.831G>A MANE Select NP_446464.1:p.Lys277=