Canonical Allele Identifier: CA266754
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92373
dbSNP Id: rs148918985

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480404C>T , CM000671.2:g.130480404C>T GRCh38
NC_000009.11:g.133355791C>T , CM000671.1:g.133355791C>T GRCh37
NC_000009.10:g.132345612C>T NCBI36
NG_011542.1:g.40698C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.793C>T MANE Select ENSP00000253004.6:p.Arg265Cys
ENST00000352480.9:c.793C>T ENSP00000253004.6:p.Arg265Cys
ENST00000372386.6:n.64C>T
ENST00000372393.7:c.793C>T ENSP00000361469.2:p.Arg265Cys
ENST00000372394.5:c.793C>T ENSP00000361471.1:p.Arg265Cys
ENST00000470849.4:n.518C>T
ENST00000492400.5:n.302C>T
ENST00000493984.6:n.570C>T
NM_000050.4:c.793C>T NP_000041.2:p.Arg265Cys
NM_054012.3:c.793C>T NP_446464.1:p.Arg265Cys
XM_005272200.2:c.793C>T XP_005272257.1:p.Arg265Cys
XM_011518705.1:c.907C>T XP_011517007.1:p.Arg303Cys
XM_005272200.3:c.793C>T XP_005272257.1:p.Arg265Cys
XM_011518705.2:c.907C>T XP_011517007.1:p.Arg303Cys
XM_017014729.1:c.889C>T XP_016870218.1:p.Arg297Cys
NM_054012.4:c.793C>T MANE Select NP_446464.1:p.Arg265Cys