Canonical Allele Identifier: CA253832
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6327
ClinVar RCV Id: RCV000006699 RCV001376631 RCV001531743 RCV003934804
dbSNP Id: rs121908639
ExAC: 9:133364851 G / A
gnomAD v2: 9-133364851-G-A
gnomAD v3: 9-130489464-G-A
gnomAD v4: 9-130489464-G-A
COSMIC: COSM6457442 COSM6457443
MyVariant Identifiers: chr9:g.133364851G>A (hg19) chr9:g.130489464G>A (hg38)
PubMed: PMID:2358466 PMID:10987146 PMID:12815590 PMID:14680976 PMID:16475226 PMID:18473344
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489464G>A , CM000671.2:g.130489464G>A GRCh38
NC_000009.11:g.133364851G>A , CM000671.1:g.133364851G>A GRCh37
NC_000009.10:g.132354672G>A NCBI36
NG_011542.1:g.49758G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.970G>A MANE Select ENSP00000253004.6:p.Gly324Ser
ENST00000352480.9:c.970G>A ENSP00000253004.6:p.Gly324Ser
ENST00000372386.6:n.241G>A
ENST00000372393.7:c.970G>A ENSP00000361469.2:p.Gly324Ser
ENST00000372394.5:c.970G>A ENSP00000361471.1:p.Gly324Ser
NM_000050.4:c.970G>A NP_000041.2:p.Gly324Ser
NM_054012.3:c.970G>A NP_446464.1:p.Gly324Ser
XM_005272200.2:c.970G>A XP_005272257.1:p.Gly324Ser
XM_011518705.1:c.1084G>A XP_011517007.1:p.Gly362Ser
XM_005272200.3:c.970G>A XP_005272257.1:p.Gly324Ser
XM_011518705.2:c.1084G>A XP_011517007.1:p.Gly362Ser
XM_017014729.1:c.1066G>A XP_016870218.1:p.Gly356Ser
NM_054012.4:c.970G>A MANE Select NP_446464.1:p.Gly324Ser
Search 100 bp 5'
Search 100 bp 3'