Canonical Allele Identifier: CA375229025
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225298
ClinVar RCV Id: RCV000490502
dbSNP Id: rs1085307056
MyVariant Identifiers: chr9:g.133355103G>C (hg19) chr9:g.130479716G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130479716G>C , CM000671.2:g.130479716G>C GRCh38
NC_000009.11:g.133355103G>C , CM000671.1:g.133355103G>C GRCh37
NC_000009.10:g.132344924G>C NCBI36
NG_011542.1:g.40010G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.689G>C MANE Select ENSP00000253004.6:p.Gly230Ala
ENST00000352480.9:c.689G>C ENSP00000253004.6:p.Gly230Ala
ENST00000372393.7:c.689G>C ENSP00000361469.2:p.Gly230Ala
ENST00000372394.5:c.689G>C ENSP00000361471.1:p.Gly230Ala
ENST00000467695.5:n.398G>C
ENST00000470849.4:n.414G>C
ENST00000492400.5:n.198G>C
ENST00000493984.6:n.513-47G>C
NM_000050.4:c.689G>C NP_000041.2:p.Gly230Ala
NM_054012.3:c.689G>C NP_446464.1:p.Gly230Ala
XM_005272200.2:c.689G>C XP_005272257.1:p.Gly230Ala
XM_011518705.1:c.803G>C XP_011517007.1:p.Gly268Ala
XM_005272200.3:c.689G>C XP_005272257.1:p.Gly230Ala
XM_011518705.2:c.803G>C XP_011517007.1:p.Gly268Ala
XM_017014729.1:c.785G>C XP_016870218.1:p.Gly262Ala
NM_054012.4:c.689G>C MANE Select NP_446464.1:p.Gly230Ala
Search 100 bp 5'
Search 100 bp 3'