Canonical Allele Identifier: CA1142722
Gene: SCAMP3 HGNC NCBI
COSMIC:
COSM4142788 (not active)
MyVariant.info:
GRCh38 chr1:g.155260340C>T
GRCh37 chr1:g.155230131C>T
gnomAD v2:
1:155230131 C / T
gnomAD v3:
1:155260340 C / T
gnomAD v4:
chr1-155260340-C-T
Joint Max Group AF 0.71616994 (EAS)
Genomes Max Group AF 0.68259926 (EAS)
Exomes Max Group AF 0.71848484 (EAS)
dbSNP:
1142287
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155260340C>T , CM000663.2:g.155260340C>T GRCh38
NC_000001.10:g.155230131C>T , CM000663.1:g.155230131C>T GRCh37
NC_000001.9:g.153496755C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302631.8:c.378G>A MANE Select ENSP00000307275.3:p.Gly126=
ENST00000302631.7:c.378G>A ENSP00000307275.3:p.Gly126=
ENST00000355379.3:c.300G>A ENSP00000347540.3:p.Gly100=
ENST00000462151.5:n.446G>A
ENST00000465312.5:n.376G>A
ENST00000472397.5:n.111G>A
ENST00000490999.5:n.313G>A
ENST00000497470.1:n.706G>A
NM_005698.3:c.378G>A NP_005689.2:p.Gly126=
NM_052837.2:c.300G>A NP_443069.1:p.Gly100=
XM_006711105.2:c.378G>A XP_006711168.1:p.Gly126=
XM_006711106.2:c.177G>A XP_006711169.1:p.Gly59=
XM_006711107.2:c.177G>A XP_006711170.1:p.Gly59=
NM_005698.4:c.378G>A MANE Select NP_005689.2:p.Gly126=
NM_052837.3:c.300G>A NP_443069.1:p.Gly100=
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