Canonical Allele Identifier: CA10632533
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365247
ClinVar RCV Id: RCV000282673
dbSNP Id: rs886063529
gnomAD v2: 9-133320217-G-A
gnomAD v3: 9-130444830-G-A
gnomAD v4: 9-130444830-G-A
MyVariant Identifiers: chr9:g.133320217G>A (hg19) chr9:g.130444830G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130444830G>A , CM000671.2:g.130444830G>A GRCh38
NC_000009.11:g.133320217G>A , CM000671.1:g.133320217G>A GRCh37
NC_000009.10:g.132310038G>A NCBI36
NG_011542.1:g.5124G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000050.4:c.-233G>A NP_000041.2:n.-233G>A
NM_054012.3:c.-171G>A NP_446464.1:n.-171G>A
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