Canonical Allele Identifier: CA10626586
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365243
ClinVar RCV Id: RCV000389814
dbSNP Id: rs886063526

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130444768G>T , CM000671.2:g.130444768G>T GRCh38
NC_000009.11:g.133320155G>T , CM000671.1:g.133320155G>T GRCh37
NC_000009.10:g.132309976G>T NCBI36
NG_011542.1:g.5062G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000050.4:c.-295G>T NP_000041.2:n.-295G>T
NM_054012.3:c.-233G>T NP_446464.1:n.-233G>T